Adapted from NOAH

The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Amniotic Band Syndrome

Adapted from

(ABS) also called Amniotic Constriction Band Syndrome is a set of congenital birth defects believed to be caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero.

In other words: before the baby was born, the body parts that were affected by ABS (arm, fingers, toes, etc.,) were caught up and entangled in string-like bands. This causes abnormalities that are present at birth.

Some common deformities that result from ABS are:

missing digits
missing limbs
webbing of fingers/toes
sometimes -- clubfoot
more rarely -- cleft lip/palate

This is a birth defect that in no way impairs the cognitive function of the baby -- it is strictly a physical issue. In some cases, there is a need for surgery for separation of webbing. In the cases where a limb is missing -- often no surgery is needed. For clubfoot -- it is treated as any other child born with this issue.

Anorectal malformations

Adapted from Cincinatti Children's

Anorectal malformations are defects that occur during the fifth to seventh weeks of fetal development. With these defects, the anus (opening at the end of the large intestine through which stool passes) and the rectum (area of the large intestine just above the anus) do not develop properly.

Anorectal Malformations affect 1 in 5,000 babies and is slightly more common in males.

The exact cause of anorectal malformations is unknown. In some cases, environmental factors or drug exposure during pregnancy may play a role, but this is still unclear.

During a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Nerves in the anal canal help us sense the need for a bowel movement and also stimulate muscle activity. Muscles in this area help control when we have a bowel movement.

With an anorectal malformation, any of the following abnormalities can occur:

  • The anal passage may be narrow or misplaced in front of where it should be located
  • A membrane may be present over the anal opening
  • The rectum may not connect to the anus
  • The rectum may connect to part of the urinary tract or the reproductive system through a passage called a fistula, and an anal opening is not present


Adapted from Children's Hospital Boston

Arthrogryposis is a term used to describe a number of rare, non-progressive conditions characterized by stiff joints and abnormal muscle development. It is also referred to as arthrogryposis multiplex congenita or amyloplasia.

The exact cause of arthrogryposis is unknown, though a number of different theories have been proposed. Some believe that arthrogryposis is caused by mechanical obstructions to intrauterine movement during pregnancy. Others believe that it may be a result of an early viral infection during development. Still others believe that arthrogryposis is the result of failure of the central nervous system and/or muscular system to develop appropriately. Arthrogryposis is not thought to be a genetic or hereditary condition.


Adapted from

Café au lait Spot
Flat patches.
Occur anywhere on body.
Tan to light brown.
If child has several spots, consult doctor. Could indicate

Cavernous Hemangioma
Bluish or bluish-red in color.
Lumpy mass.
Borders not visible as with other hemangiomas.
Grows fast during first 6 months – then slows95% disappear by 10-12 years of age.
Treatments are the same as for strawberry hemangioma.

Congenital Pigmented Nevi
Appear as hairy moles.
Can vary in color – light brown to dark/almost black.
Giant pigmented nevi are not as common as small ones.
Large nevi should be examined for malignancy.

Reddish in color.
83% occur on the head and neck area.
Occur 5 times more often in females.
Some visible at birth or within 1 to 4 weeks after birth.
Can grow for up to 18 months, then start to involute.
Involution can last 3 – 10 years.
Some can be life threatening – interfere with eating, breathing, seeing, hearing, speaking, cause strain on heart.
Internal hemangiomas can be very dangerous and hard to detect – some internal lesions require no treatment and shrink in time.
If more than 3 hemangiomas are present, entire body scan should be done.

Lymphatic Malformation
Excess fluid accumulates causing lymphatic vessels to enlarge.
Sponge-like masses of abnormal channels and spaces containing clear fluid.
Leakage from skin can occur – can lead to cellulitis.
If lymph vessels in face affected, face will swell.
Can occur anywhere on body but most common in head and neck area.
In mouth area, looks like frog eggs.
Can increase and grow with the individual.
Only skilled surgeon should treat.
MRI and CAT scan are used to diagnose.
Laser treatment, sclerotherapy, and surgery used to treat or remove.

Mongolian Spot
Blue or slate grey in color.
Resemble bruises.
Common in babies of races with dark skin (African/African-American, Mediterranean, Asian or Indian descent).
Can be found on buttocks, back and sometimes legs and shoulders.
No treatment needed – usually fade over time.

Port Wine Stain or Nevus Flammeus
Red or purple in color.
Can appear anywhere on body.
Most are readily visible at birth – congenital.
Can be flat or slightly raised.
Usually permanent.
Laser treatment used to help reduce color, and to improve the texture of the skin (helps to prevent nodules and pws growth which can affect lips, gums and other tissues).
photo courtesy of laidongth at flickr

Salmon Patch or Nevus Simplex
Sometimes called “angel kiss” or “stork bite”.
Most often found on the nape of the neck.
Also appear on the forehead, upper eyelids, and around the mouth and nose.
More than 95% lighten and fade completely.

Strawberry Hemangioma
Vascular malformation.
Red, soft, raised appearance.
Size varies.
May be present at birth or first few weeks thereafter.
Will grow, but start to fade (involute), turn grey in color.
Usually disappear between ages 5-10.
Surgery might be necessary to remove – depending on size and location of lesion.
Other treatments - compression and massage, steroids, X-ray therapy, laser therapy, cryotherapy, or injection of hardening agents.

Venous Malformation
Abnormality of the large deep veins, sometimes mistaken for hemangioma.
Can be deep or superficial – deep can have no color but show a protruding mass.
Jaw, cheek lips and tongue are most common areas affected.
Soft to the touch, color disappears and empties when the lesion is compressed.
When a child cries or is lying down the lesion expands and the vessels fill and the color becomes more intense.
Slow, steady enlargement – it will grow – some things cause more rapid growth such as serious sickness, trauma, infection, hormone changes (puberty, pregnancy, menopause).
Partial removal is not recommended, as these lesions will grow back.

Brachial Plexus Injury

Adapted from National Institute of Health

Brachial Plexus Injury

The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the baby’s shoulder is stretched during passage in the birth canal.

diagram courtesy of nickbrazel on flickr

The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury. Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.

a one-month-old boy with Erb's Palsy;
photo courtesy of interplast on flickr

Cerebral Palsy

Adapted from United Cerebral Palsy

Cerebral palsy, also referred to as CP, is a term used to describe a group of chronic conditions affecting body movement and muscle coordination. It is caused by damage to one or more specific areas of the brain, usually occurring during fetal development; before, during, or shortly after birth; or during infancy. Thus, these disorders are not caused by problems in the muscles or nerves. Instead, faulty development or damage to motor areas in the brain disrupt the brain's ability to adequately control movement and posture.

"Cerebral" refers to the brain and "palsy" to muscle weakness/poor control. Cerebral palsy itself is not progressive (i.e. brain damage does not get worse); however, secondary conditions, such as muscle spasticity, can develop which may get better over time, get worse, or remain the same. Cerebral palsy is not communicable. It is not a disease and should not be referred to as such. Although cerebral palsy is not "curable" in the accepted sense, training and therapy can help improve function.

photo courtesy of saritainchina on flickr

Cleft Lip/Cleft Palate

Adapted from Cleft Palate Foundation

A cleft lip is a separation of the two sides of the lip. The separation often includes the bones of the upper jaw and/or upper gum. A cleft palate is an opening in the roof of the mouth in which the two sides of the palate did not fuse, or join together, as the unborn baby was developing. Cleft lip and cleft palate can occur on one side (unilateral cleft lip and/or palate), or on both sides (bilateral cleft lip and/or palate). Because the lip and the palate develop separately, it is possible for the child to have a cleft lip, a cleft palate, or both cleft lip and cleft palate.

Before and after Surgery; photos courtesy of interplast on Flickr

Cleft lip and cleft palate are congenital defects, or birth defects, which occur very early in pregnancy. The majority of clefts appear to be due to a combination of genetics and environmental factors. The risks of recurrence of a cleft condition are dependent upon many factors, including the number of affected persons in the family, the closeness of affected relatives, the race and sex of all affected persons, and the severity of the clefts.

A child born with a cleft frequently requires several different types of services, e.g., surgery, dental/orthodontic care, and speech therapy, all of which need to be provided in a coordinated manner over a period of years. This coordinated care is provided by interdisciplinary cleft palate/craniofacial teams comprised of professionals from a variety of health care disciplines who work together on the child’s total rehabilitation.

Glossary of terms


What is clubfoot?

Clubfoot, also known as talipes equinovarus, is a common congenital birth defect present in approximately 150,000 newborns worldwide every year. It affects boys slightly more frequently than girls and bilateral clubfoot (when both feet are affected) occurs in 30-50% of cases. The cause of clubfoot is largely unknown, but environmental factors and genetics are believed to play a part. When a child is born with the condition, the affected foot is turned upward and inward. If left uncorrected, the child would walk on the side or top of the foot. The goal of treating the clubfoot is to achieve a foot that looks and functions as much like a normal foot as possible. Most doctors agree that the initial treatment should be non-operative. Unfortunately, many doctors are not correctly trained in the Ponseti Method of serial casting, and surgery becomes too often the rule, instead of the exception.

little one before treatment at An Orphan's Wish

What is the Ponseti Method of treatment?

Dr. Ponseti began developing a method to correct clubfoot without surgery in 1948. Dr. Ponseti passed away in October of 2009, at the age of 95. He continued to treat children with clubfoot at the University of Iowa Children’s Hospital, until just months before he passed away.

Ponseti’s method involves a series of plaster casts, applied from toe to groin, changed every 5 to 7 days. The doctor gently manipulates the bones of the foot in a specific order. The cast holds the foot in the new position, gently stretching the tendons and ligaments. With each cast change, the foot is manipulated in small increments, until the last cast achieves full correction. Most children with clubfoot require 5 – 7 casts and only in atypical cases are more casts necessary. For a child treated from birth, no more than 9 casts are required to achieve full correction.

A percutaneous tenotomy is required in approximately 80% of patients to lengthen the Achilles’ tendon to complete the correction. This procedure can be done in an office setting with local anesthesia. It involves a small poke with a tiny scalpel in the child’s heel and requires no stitches to close the wound. After the tenotomy, the final cast is applied, which stays on for 3 weeks in order for the tendon to regenerate to the proper length. When the last cast is removed, the child begins wearing a brace that holds the corrected foot in a stretched position, essentially ‘retraining’ the body to recognize the new, corrected, foot alignment; similar to the use of a retainer after orthodontic braces are removed.

The brace consists of two shoes, connected by a bar. The brace is worn for 23 hours a day for the first 3 months. Over time, the daily bracing hours are gradually reduced. By the time the child is walking, the bracing hours are reduced to bed time only. The brace is worn at night until approximately 5 years of age. The tendency for the foot to relapse remains active for years, but diminishes over time as the child grows. The exact causes of relapse are still being studied. At this time there are no criteria to determine whether or not a child’s foot is prone to relapse. Wearing the brace to keep the foot stretched gives the child the best chance to avoid relapse. After they are released from the brace wear, there are no special requirements and, assuming the child has no additional health issues, they may pursue an active lifestyle with no restrictions. When applied by a skilled physician, Ponseti’s method is successful in achieving complete correction in nearly 100% of patients with congenital clubfoot.

same little guy... after serial castings!

Why is serial casting better than surgery?

The Ponseti method has many advantages over surgical reconstruction. The first consideration is how much easier gentle manipulations and serial castings are for the patient to endure. Casting is not painful and often the child watches curiously as the foot is gently manipulated and as the plaster casts are applied. Secondly, surgery often makes the clubfoot ‘look’ correct, but internally the components of the foot and leg have been weakened. Excessive scar tissue, stiffness and limited motion can be effects of surgery, occurring early in the patient’s life and lasting a lifetime. This leaves the patient with a somewhat normal looking foot, but with potentially debilitating foot pain. Patients who have had their clubfoot reconstructed surgically often require additional surgeries over time; which can lead to more scar tissue and complications.

Congenital Heart Defects

Adapted from March of Dimes

Congenital Heart Defects ~ Most common types

photo courtesy of nadanaka on Flickr

  • Patent ductus arteriosus (PDA): Before birth, a large artery (ductus arteriosus) lets the blood bypass the lungs because the fetus gets its oxygen through the placenta. The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure. This problem occurs most frequently in premature babies. Treatment with medicine during the early days of life often can close the ductus. If that doesn't work, surgery is needed.

diagram available through the Creative
Commons license, courtesy of Wikipedia

  • Septal defect: This is a hole in the wall (septum) that divides the right and left sides of the heart. A hole in the wall between the heart’s two upper chambers is called an atrial septal defect, while a hole between the lower chambers is called a ventricular septal defect. These defects can cause the blood to circulate improperly, so the heart has to work harder. Some atrial septal defects can be repaired without surgery by inserting a thin, flexible tube into the heart and then releasing a device that plugs the hole. A surgeon also can close an atrial or ventricular septal defect by sewing or patching the hole. Small holes may heal by themselves or not need repair at all.

diagram courtesy of Mizm on Flickr

  • Coarctation of the aorta: Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly. A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body. Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter (tube) inserted through an artery.
  • Heart valve abnormalities: Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly. Surgeons usually can repair the valves or replace them with man-made ones. Balloons on catheters also are frequently used to fix faulty valves.
photo available through the Creative
Commons license, courtesy of Wikipedia

  • Tetralogy of Fallot: This combination of four heart defects keeps some blood from getting to the lungs. As a result, the blood that is pumped to the body may not have enough oxygen. Affected babies have episodes of cyanosis and may grow poorly. This defect is usually surgically repaired in the early months of life.
diagrams and photos courtesy of laidongth,
wisdomheart and peterstuckings, all on Flickr

  • Transposition of the great arteries: Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber. Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood. Recent surgical advances make it possible to correct this serious defect in the newborn period.
photo available through the Creative
Commons license, courtesy of Wikipedia

  • Hypoplastic left heart syndrome: This combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life. Without treatment, this defect is usually fatal in the first few weeks of life. However, over the last 25 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants.

photo courtesy of Wen-Yan King on Flickr

DiGeorge Syndrome

Adapted from Children's Hospital of Philadelphia

The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:
In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels)
hypoplastic thymus or absent thymus, which results in problems in the immune system
conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
cleft lip and/or palate
The name of DiGeorge syndrome was applied to this group of features.

In the 1970s, Robert Shprintzen, PhD, a speech pathologist, described a group of patients with similar clinical features including cleft lip and/or palate, conotruncal heart defects, absent or hypoplastic thymus, and some of these patients also had hypocalcemia. Dr. Shprintzen named this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.

In the 1980s, the technology was developed to identify an underlying chromosome defect in these syndromes and it was determined that over 90% of all patients with features of DiGeorge, Shprintzen, and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11. In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names.

Many physicians and researchers today use the term 22q11 deletion syndrome because it describes the underlying chromosome problem, or velo-cardio-facial syndrome (VCFS) because it describes the main body systems involved.

Ninety percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. This region encompasses about 30 individual genes and results in developmental defects in specific structures throughout the body. It is not known why this region of chromosome 22 is prone to become deleted, but this is one of the most frequent chromosome defects in newborns.

Deletion 22q11 is estimated to occur in one in 3000 to 4000 live births. Most of the 22q11 deletion cases are new occurrences or sporadic (occurs by chance). However, in about 10% of families, the deletion is inherited and other family members are affected, or at risk for passing this deletion to their children. Any person who has this deletion has a 50% chance of passing the deletion to a child. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have their blood studied to look for this deletion.

Approximately 10 percent of individuals who have the features of the velo-cardio-facial syndrome (VCFS) do not have a deletion in the chromosome 22q11 region. Sometimes, other chromosome defects have been associated with these features, as well as maternal diabetes, fetal alcohol syndrome, and prenatal exposure to Accutane (a medication for cystic acne).

The following are the most common features of DiGeorge syndrome:
69% have palatal abnormalities (such as cleft lip and/or palate)
30% have feeding difficulties
80% have conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
40% have hearing loss or abnormal ear exams
30% have genitourinary anomalies (absent or malformed kidney)
60% have hypocalcemia (low blood calcium levels)
40% have microcephaly (small head)
40% have mental retardation (usually borderline to mild) IQs are generally in the 70 to 90 range
33% of adults have psychiatric disorders (i.e., schizophrenia, bipolar disorder)
2% have severe immunologic dysfunction (an immune system which does not work properly due to abnormal T-cells, causing frequent infections)

Facial features of children with DiGeorge syndrome may include the following:
small ears with thickened, overfolded upper ear
hooded eyelids
prominent nose with bulbous tip
cleft lip and/or palate
small mouth, chin, and side areas of the nose tip

The symptoms of DiGeorge syndrome may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.

Ectodermal Dysplasia

Adapted from National Foundation for Ectodermal Dysplasias

Ectodermal Dysplasia

The ectodermal dysplasia (ED) syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. ED syndromes affect both males and females of all races and ethnic groups.

The ectoderm contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. During embryonic development, these and/or other parts of the baby’s body, including the lens of the eye, parts of the inner ear, the fingers and toes, or nerves, among others, may fail to develop normally.
When a child has at least two types of abnormal ectodermal features—for example, malformed teeth and extremely sparse hair—the child is identified as being affected by an ED “syndrome.” Each of the roughly 150 ED syndromes represents a different combination of abnormalities. Physical symptoms can range from mild to extremely severe. Very few types of ED involve learning difficulties.

Dental abnormalities in a five-year-old who
suffers from ED. The x-ray shows the absence
of ten primary and 11 permanent teeth.

photo and x-ray available through the Creative
Commons license, courtesy of Wikipedia

Ear Malformations

Adapted from the Atresia Microtia Foundation


Aural atresia refers to the absence an external ear canal. When someone has aural atresia, there is a high incidence of malformation of the external ear and middle ear also, but the inner ear and auditory nerve are frequently normal.

A narrowed ear canal (i.e. one where the eardrum can be viewed, but the canal is narrower than normal) is sometimes referred to as a stenotic canal, or canal stenosis.

Aural atresia most commonly effects just one ear (unilateral), but can occur both ears (bilateral).

Atresia can be a symptom of a larger syndrome, such as Treacher Collins, Crouzon's, Alpert's, Preiffer, Klippel-Feil, BOR (Branchio-Oto-Renal), 18-q chromosome, as well as Hemifacial Microsomia.

photo courtesy of Wen-Yan King on Flickr


Microtia literally translates from the Latin to mean “small ear”. Microtia varies from the complete absence of the ear (which is referred to as anotia) to a somewhat normal but small ear.

Microtia Statistics:

• Nearly twice as frequent in males as in females
• Averages occurrence is 1 in 6,000 when averaged across all ethnic groups
• Approximately 60 % unilateral right, 30 % unilateral left, 10 % bilateral

photo available through the Creative
Commons license, courtesy of Wikipedia

G6PD deficiency

Glucose-6-phosphate dehydrogenase (G6PD) Deficiency


G6PD deficiency is an X-linked inherited blood disorder in which the body doesn’t have enough of the enzyme G6PD. This means that if a boy (XY) receives an X chromosome that is deficient, he will have a significant G6PD deficiency. A girl (XX) can receive either one deficient X chromosome, or two. This means that girls can have more varied levels of G6PD deficiency, from non-symptomatic to highly deficient. Even some girls who are carriers (one good X and one bad X) have been found to be symptomatic. Some females are more highly deficient than expected, because they have one deficient X chromosome and a second mutated and/or damaged X chromosome.
  • This is the most common inherited enzyme defect in the world.
  • With the right precautions, a child with G6PD deficiency can lead a healthy and active life.
  • G6PD deficiency is common in Guangdong, Taiwan, Guangxi and other parts of South China. It is found in the Han, Zhuang, Li and Miao ethnic groups, as well as others.
  • In China many of those affected with G6PD deficiency have less than 10% enzyme activity, resulting in a high degree of sensitivity to oxidizing substances.
  • Some of the G6PD variants result in chronic hemolytic anemia (CNSHA).
  • G6PD deficiency is thought to be a defense against Malaria and occurs in the same regions as the Thalassemias. A person can have both Thalassemia, major or trait and G6PD deficiency.
  • Tests for G6pd deficiency in boys are easily administered and reliable.
  • Tests for G6pd deficiency in girls are difficult, expensive and often require genetic analysis. However in China new more reliable, less expensive tests are being developed to detect G6PD deficiency in girls.
  • G6PD deficiency in women has been found to become more acute as they age.
  • Those who are G6PD deficient are likely to have an increased risk of diabetes, hypertension, sepsis and its complications and cataracts.
G6PD is required to neutralize oxidative substances in the body and metabolize carbohydrates properly. Without enough G6PD, red blood cells begin to break down quickly. G6PD is important for the life of all cells, cell growth and development. G6pd deficiency is not curable at this time. The only treatment is avoidance of trigger substances and hospitalization and blood transfusions in cases of extreme hemolysis (breakdown of red blood cells). Extreme haemolytic episodes can result in renal failure and/or death.

Things to avoid

Each person, and each G6PD variant (approximately 400) can react differently to identified trigger substances. There are however, accepted lists of substances that may need to be avoided.

These include:
  1. NSAIDS (Asprin, Ibuprophen)
  2. Tylenol
  3. Quinolones
  4. Drugs metabolized through the liver or known to cause blood or liver related problems or hemolysis
  5. Sulfa drugs
  6. Petrochemically derived substances (This is a long list and gets longer every year. Many artificial foods, dyes and vitamins are included in this list.)
  7. Moth Balls and anything containing naphthalene.
  8. Methylene and Toluidine blue
  9. Legumes and their derivatives (for example: soy, peanut, beans, peas, licorice, food thickeners and gums, MSG)
  10. Other substances including blueberries, blue food coloring, tonic water/quinine, red wine, sulfites, mothballs, and petroleum derived substances.
  11. Illness / fever can also trigger G6PD symptoms.
Some G6PD deficient people try to reduce oxidative stress by ingesting antioxidants (w/o blueberries or blue food coloring) and taking folic acid, in addition to avoiding trigger substances.


Symptoms can be found in both those who have been diagnosed (boys and some girls) and those who have not yet been diagnosed (esp. in girls from South China / SE Asia). Symptoms generally occur within three days of exposure to triggering substance. Once the triggering substance is removed or the illness resolved, the symptoms generally improve over a period of weeks. Mild symptoms can be treated at home, more severe symptoms may require hospitalization.
  • paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
  • extreme tiredness
  • rapid heartbeat
  • rapid breathing or shortness of breath
  • an enlarged spleen
  • dark, tea-colored urine
  • abdominal / back pain
  • bruising
  • fever
  • weakness
  • dizziness
  • confusion

Classes of G6PD Enzyme Variants:

Class Level of deficiency Enzyme activity Prevalence



Chronic nonspherocytic hemolytic anemia in the presence of normal erythrocyte function

Uncommon; occurs across populations



Less than 10 percent of normal

Varies; more common in Asian and Mediterranean populations



10 to 60 percent of normal

10 percent of black males in the United States


Mild to none

60 to 150 percent of normal




Greater than 150 percent of normal


Adapted from

• Hirono A, Fujii H, Miwa S. Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia. Blood 1995;85:1118-21.
• Mason PJ, Sonati MF, MacDonald D, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 1995;85:1377-80.


Adapted from Dr.

Hemihypertrophy, also called hemihyperplasia, is a greater-than-normal asymmetry between the right and left sides of the body. This difference can be in just one finger; just one limb; just the face; or an entire half of the body, including half the brain, half the tongue and the internal organs, or any variation in between. Someone with hemihypertrophy might have acne on only one side of the face. The skin is often thicker, and there may be more hair on the head, on the larger side. Rarely, children can have crossed hemihypertrophy (one leg and the opposite arm are larger than their partners).

Theories abound as to the cause of hemihypertrophy - perhaps it is increased blood flow or decreased lymph drainage, or nerve or hormone abnormalities. To date, not enough research has been conducted to choose between the theories. We don't know the cause, but we do know that hemihypertrophy is usually not inherited. People with hemihypertrophy can go on to have healthy, normal children.

Hemolytic Anemia

Hemolytic Anemia adapted from National Heart Lung and Blood Institute

Hemolytic anemia is a rare form of anemia in which red blood cells are destroyed and removed from the bloodstream before their usual lifespan is up. Healthy red blood cells usually live about 4 months in the bloodstream before the body removes them. In hemolytic anemia, the body breaks down and removes red blood cells faster than it can replace them. The breakdown of red blood cells is called hemolysis.

Hemolytic anemia is due to increased hemolysis (destruction) of red blood cells. The bone marrow increases production of red blood cells to replace the hemolyzed blood cells, but it can’t produce them fast enough to meet the body’s needs.

In some types of hemolytic anemia, the body makes abnormal red blood cells that break down and hemolyze on their own. In other types of hemolytic anemia, the body’s immune system, infections, certain drugs, or other agents attack normal red blood cells, causing them to hemolyze. The hemolysis can occur in the bloodstream or in an organ called the spleen.

The two main types of hemolytic anemia are inherited and acquired. In inherited hemolytic anemia, the condition is passed from parent to child. In acquired hemolytic anemia, the person develops the condition from some other cause. Hemolytic anemia can begin rapidly or come on gradually and can range from mild to severe.

Hemolytic anemia can often be successfully treated or controlled. The course of hemolytic anemia depends on the cause and the severity of the anemia. Mild hemolytic anemia may need no treatment at all. Severe hemolytic anemia can be life threatening if it’s not treated.

If you have an inherited form of hemolytic anemia, it’s a lifelong condition that requires ongoing treatment. If your anemia is caused by an infection or use of a particular medicine, the anemia may go away when the infection is treated or when the medicine is stopped.


Adapted from National Institute of Health

The term hydrocephalus is derived from the Greek words "hydro" meaning water and "cephalus" meaning head. As the name implies, it is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF) — a clear fluid that surrounds the brain and spinal cord. The excessive accumulation of CSF results in an abnormal widening of spaces in the brain called ventricles. This widening creates potentially harmful pressure on the tissues of the brain.

photo courtesy of Wen-Yan King on Flickr

The ventricular system is made up of four ventricles connected by narrow passages.. Normally, CSF flows through the ventricles, exits into cisterns (closed spaces that serve as reservoirs) at the base of the brain, bathes the surfaces of the brain and spinal cord, and then reabsorbs into the bloodstream.

CSF has three important life-sustaining functions: 1) to keep the brain tissue buoyant, acting as a cushion or "shock absorber"; 2) to act as the vehicle for delivering nutrients to the brain and removing waste; and 3) to flow between the cranium and spine and compensate for changes in intracranial blood volume (the amount of blood within the brain).

The balance between production and absorption of CSF is critically important. Because CSF is made continuously, medical conditions that block its normal flow or absorption will result in an over-accumulation of CSF. The resulting pressure of the fluid against brain tissue is what causes hydrocephalus.

Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by either events or influences that occur during fetal development, or genetic abnormalities. Acquired hydrocephalus develops at the time of birth or at some point afterward. This type of hydrocephalus can affect individuals of all ages and may be caused by injury or disease.


Adapted from The Children's Tumor Foundation

Neurofibromatosis encompasses a set of distinct genetic disorders that cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body.

Types Of Neurofibromatosis

Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.

Neurofibromatosis 1 (NF1): also known as von Recklinghausen NF or Peripheral NF. Occurring in 1:3,000 births, web characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities.

Neurofibromatosis 2 (NF2): also known as Bilateral Acoustic NF (BAN), is much rarer occurring in 1:25,000 births. NF2 is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom.

Schwannomatosis: a rare form of NF that has only recently been recognized and appears to affect around 1:40,000 individuals. It is less well understood than NF1 and NF2, and features may vary greatly between patients.

Polands Syndrome

Adapted from National Organization for Rare Disorders (NORD)

Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. However, it is classically characterized by absence (aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed fingers (symbrachydactyly) of the hand on the same side (ipsilateral).

In those with the condition, there is typically unilateral absence of the pectoralis minor and the sternal or breastbone portion of the pectoralis major. The pectoralis minor is a thin, triangular muscle of the upper chest wall; the pectoralis major is a large, fanlike muscle that covers most of the upper, front part of the chest.

Affected individuals may have variable associated features, such as underdevelopment or absence of one nipple (including the darkened area around the nipple) and/or patchy absence of hair under the arm. In females, there may be underdevelopment or absence (aplasia) of one breast and underlying tissues. In some cases, associated skeletal abnormalities may also be present, such as underdevelopment or absence of upper ribs; elevation of the shoulder blade (Sprengel deformity); and/or shortening of the arm, with underdevelopment of the forearm bones.

Poland Syndrome affects males more commonly than females and most frequently involves the right side of the body. The exact cause of the condition is unknown.

Sacrococcygeal Teratoma

Adapted from UCSF Children's Hospital and Children's Hospital of Wisconsin

Sacrococcygeal teratoma (SCT) is an unusual tumor that, in the newborn, is located at the base of the tailbone (coccyx). This birth defect is more common in female than in male babies. Although the tumors can grow very large, they are usually not malignant (that is, cancerous). They can usually be cured by surgery after birth, but occasionally cause trouble before birth.

Most fetuses with sacrococcygeal teratoma do well with surgical treatment after birth. These tumors are generally not malignant. Babies with small tumors that can be removed along with the coccyx bone after birth can be expected to live normal lives, although they should be followed for development of tumors later in life, using a simple blood test for alpha feta-protein. Fetuses with larger tumors or tumors that go up inside the baby’s abdomen will require more complex surgery after birth, but in general do well. Again, they will have to be followed with blood tests for several years. Fetuses with very large tumors, which can reach the size of the fetus itself, pose a difficult problem both before and after birth.

The long-term prognosis for babies diagnosed prenatally with a SCT is excellent. An important indicator of prognosis is the age at diagnosis and resection. Cystic tumors carry a better prognosis also because they are less likely to hemorrhage or have heart failure complications such as hydrops. There are risks that can compromise these babies before and after birth. The two major complications that endanger these babies are difficulties with the resection and hemorrhage of the tumor. With resection, it is recommended that the coccyx be removed along with the SCT to prevent recurrence, the most likely complication. The risk of reoccurrence when the coccyx is not removed is 35 to 40 percent.

The most severe risk of a Sacrcoccgyeal Teratoma is before or at birth. Once the tumor is removed, prognosis is excellent. Ideally the coccyx bone was removed during surgery. If not, a surgeon may want to remove it once the child is home. Since the mass is quite often large the scar from teratoma removal may be large and is most likely in the tailbone area.

Spina Bifida

Adapted from Spina Bifida Association

Spina Bifida ~ Types

Often called hidden Spina Bifida, the spinal cord and the nerves are usually normal and there is no opening on the back. In this relatively harmless form of Spina Bifida, there is a small defect or gap in a few of the small bones (vertebrae) that make up the spine.

There may be no motor or sensory impairments evident at birth. Subtle, progressive neurologic deterioration often becomes evident in later childhood or adulthood.

In many instances, Spina Bifida Occulta is so mild that there is no disturbance of spinal function at all. Occulta can be diagnosed at any age.

x-ray available through the Creative
Commons License, courtesy o
f Wikipedia

The protective coatings (meninges) come through the open part of the spine like a sac that is pushed out. Cerebrospinal fluid is in the sac and there is usually no nerve damage. Individuals may suffer minor disabilities. Additional problems can develop later in life.

diagram available through the Creative
Commons License, courtesy o
f Wikipedia

This form of Spina Bifida occurs when the meninges (protective covering of the spinal cord) and spinal nerves come through the open part of the spine. This is the most serious type of Spina Bifida, which causes nerve damage and more severe disabilities.

Tethered Cord

Adapted from University of Missouri

Tethered Cord Syndrome

The spinal cord extends from the base of the brain through the boney spine to the lower back. Soon after conception, special cells come together to form a tube that will become your baby's spinal cord. If this tube does not completely close, the spinal cord can become tethered. The cord is said to be "tethered" when it is abnormally attached within the boney spine.

There are two ways the spinal cord can become tethered.

  • If your child was born with spina bifida (open spine) then the cord could become tethered because of the scar tissue that resulted from surgically closing the spine at birth. This scar tissue causes the cord to attach abnormally.
  • The spinal cord can also become tethered with spina bifida occulta. This can occur without visible outward signs although usually half the children have visible symptoms.

In both cases, the tube that forms the spine failed to completely close during pregnancy.This may not be a problem until the child develops symptoms. Normally the spinal cord is able to move freely when your child bends or stretches but when it is tethered, it is stretched, especially with those movements. This abnormal stretching puts tension on the cord that can cause permanent damage to the muscles and nerves that control the legs, feet, bowel and bladder. Early detection and treatment is important to prevent this from occurring.

young child with a repaired tethered cord
photo courtesy of Tasty Crochet on flickr


Adapted from

Thalassemia is the name of a group of genetic blood disorders. To understand how thalassemia affects the human body, you must first understand a little about how blood is made.

Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn't produce enough of either of these two proteins, the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life.

Since thalassemia is not a single disorder but a group of related disorders that affect the human body in similar ways, it is important to understand the differences between the various types of thalassemia.

Alpha Thalassemia
People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. It is commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region.

There are four types of alpha thalassemia that range from mild to severe in their effect on the body.

Silent Carrier State. This condition generally causes no health problems because the lack of alpha protein is so small that the hemoglobin functions normally. It is called "silent carrier" because of how difficult it is to detect. Silent carrier state is "diagnosed" by deduction when an apparently normal individual has a child with hemoglobin H disease or alpha thalassemia trait.

Hemoglobin Constant Spring. This is an unusual form of Silent Carrier state that is caused by a mutation of the alpha globin. It is called Constant Spring after the region of Jamaica in which it was discovered. As in silent carrier state, an individual with this condition usually experiences no related health problems.

Alpha Thalassemia Trait or Mild Alpha Thalassemia. In this condition, the lack of alpha protein is somewhat greater. Patients with this condition have smaller red blood cells and a mild anemia, although many patients do not experience symptoms. However, physicians often mistake mild alpha thalassemia for iron deficiency anemia and prescribe iron supplements that have no effect on the anemia.

Hemoglobin H Disease. In this condition, the lack of alpha protein is great enough to cause severe anemia and serious health problems such as an enlarged spleen, bone deformities and fatigue. It is named for the abnormal hemoglobin H (created by the remaining beta globin) that destroys red blood cells.

Hemoglobin H-Constant Spring. This condition is more severe than hemoglobin H disease. Individuals with this condition tend to have a more severe anemia and suffer more frequently from enlargement of the spleen and viral infections.

Homozygous Constant Spring. This condition is a variation of hemoglobin H-Constant Spring that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to hemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a carrier of alpha thalassemia trait). This condition is generally less severe than hemoglobin H Constant Spring and more similar to hemoglobin H disease.

Hydrops Fetalis or Alpha Thalassemia Major. In this condition, there are no alpha genes in the individual's DNA, which causes the gamma globins produced by the fetus to form an abnormal hemoglobin called hemoglobin Barts. Most individuals with this condition die before or shortly after birth. In some extremely rare cases where the condition is discovered before birth, in utero blood transfusions have allowed the birth of children with hydrops fetalis who then require lifelong blood transfusions and medical care.

Beta Thalassemia

People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

There are three types of beta thalassemia that also range from mild to severe in their effect on the body.

Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.

Thalassemia Intermedia. In this condition the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the amount of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.

Thalassemia Major or Cooley's Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.

Other Forms of Thalassemia

In addition to the alpha and beta thalassemias, there are other related disorders that occur when the gene for alpha or beta thalassemia combines with an abnormal or mutant gene.

E Beta Thalassemia. Hemoglobin E is one of the most common abnormal hemoglobins. It is usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai. When combined with beta thalassemia, hemoglobin E produces E beta thalassemia, a moderately severe anemia which is similar in symptoms to beta thalassemia intermedia.

Sickle Beta Thalassemia. This condition is caused by a combination of beta thalassemia and hemoglobin S, the abnormal hemoglobin found in people with sickle cell disease. It is commonly found in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition varies according to the amount of normal beta globin produced by the beta gene. When no beta globin is produced by the beta gene, the condition is almost identical with sickle cell disease. The more beta globin produced by the beta gene, the less severe the condition.

Vision Issues

Strabismus (crossed eyes)

Strabismus is the condition where the eyes are misaligned. Different types of strabismus include crossed eyes (esotropia, the most common type in children), out-turned eyes (exotropia), or vertical misalignment (hyper or hypotropia). The problem may be present intermittently or constantly. Treatment options depend upon the type of strabismus, and may include glasses, prism lenses, and/or surgery.
To read more about strabismus, go here.

after surgery; photo courtesy of mmmmaaaayyyy on flickr

Amblyopia (lazy eye)

Amblyopia, commonly known as lazy eye, is the eye condition noted by reduced vision not correctable by glasses or contact lenses and is not due to any eye disease. The brain, for some reason, does not fully acknowledge the images seen by the amblyopic eye. This almost always affects only one eye but may manifest with reduction of vision in both eyes. It is estimated that three percent of children under six have some form of amblyopia.


Glaucoma is a disease caused by increased intraocular pressure (IOP) resulting either from a malformation or malfunction of the eye’s drainage structures. Left untreated, an elevated IOP causes irreversible damage the optic nerve and retinal fibers resulting in a progressive, permanent loss of vision. However, early detection and treatment can slow, or even halt the progression of the disease.

left: shows a normal range of vision, unaffected by glaucoma
right: the same view with advanced vision loss from glaucoma

glaucoma diagram and above photos available through

the Creative Commons license, courtesy of Wikipedia


Congenital cataract is a lens opacity that is present at birth or shortly after birth.

Congenital cataracts may be sporadic, or they may be caused by chromosomal anomalies, metabolic disease (eg, galactosemia), or intrauterine infection (eg, rubella) or other maternal disease during pregnancy. Cataracts may be located in the center of the lens (nuclear), or they may involve the lens material underneath the anterior or posterior lens capsule (subcapsular or cortical). They may be unilateral or bilateral. They may not be noticed unless the red reflex is checked or unless ophthalmoscopy is done at birth. As with other cataracts, the lens opacity obscures vision. Cataracts may obscure the view of the optic disk and vessels and should always be evaluated by an ophthalmologist.

Removal of a cataract within 17 wk after birth permits the development of vision and cortical visual pathways. Cataracts are removed by aspirating them through a small incision. In many children, an intraocular lens may be implanted. Postoperative visual correction with eyeglasses, contact lenses, or both is usually required to achieve the best outcome.

After a unilateral cataract is removed, the quality of the image in the treated eye is inferior to that of the other eye (assuming the other eye is normal). Because the better eye is preferred, the brain suppresses the poorer-quality image, and amblyopia develops. Thus, effective amblyopia therapy is necessary for the treated eye to develop normal sight. Some children are unable to attain good visual acuity because of accompanying structural defects. In contrast, children with bilateral cataract removal in which image quality is similar in both eyes more frequently develop equal vision in both eyes.

Some cataracts are partial (posterior lenticonus) and opacify during the 1st decade of life. Eyes with partial cataracts will have a better visual outcome.