What is ED?

What is ED?  
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.

Does ED affect lifespan?
In rare cases, ED can affect lifespan but that typically is not the case.  

How many people are affected by ED?
No one is really sure. The latest estimate, published in the 1990 edition of The Birth Defects Encyclopedia, is that as many as seven of every 10,000 babies are born with an ED syndrome. 

What causes ED?
All ED syndromes are genetic disorders, which means that they can be inherited or passed on to children. However, it is possible for a child to be the first person in his or her family to be affected by ED. In that case, the ED syndrome likely has been caused by a genetic mutation that occurred when the sperm or egg was formed or after fertilization took place. 

It is important for parents to realize that they are not to blame if their child has been born with an ED syndrome. The ED syndrome was caused solely by genetic malfunctioning that could not have been controlled or prevented.  

How is ED diagnosed?
In some cases, ED is apparent at birth. In other cases, a parent or doctor may only begin to suspect that a problem exists when teeth fail to develop normally.  

The ED syndromes are diagnosed according to the pattern of affected parts of the body. In one type, for example, only the teeth and sweat glands may be affected; in another type, only the hair and nails may be affected. Ideally, the teeth, hair, nails, and sweat glands are all evaluated in order to make a diagnosis. Complex forms of ED may affect the development or function of other body structures, as well.

There are no diagnostic laboratory tests currently available to test for ED. However, DNA studies can confirm a suspected diagnosis for several types of ED.

How exactly are various parts of the body affected by ED syndromes and what treatments are available?

ED typically affects specific parts of the body in the following ways:

Hair
Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body hair may be thin, sparse, and very light in color, even though beard growth in affected males may be normal. The hair may be excessively brittle, curly, or even twisted. Wigs and make-up can mask defects in hair development.

Nails
Fingernails and toenails may be thick, abnormally shaped, discolored, ridged, slow-growing, or brittle. The cuticles may be prone to infections.

Skin
The skin may be lightly pigmented. In some cases, red or brown pigmentation may be present. Skin can be prone to rashes or infections and can be thick over the palms and soles. Care must be taken to prevent cracking, bleeding, and infection.

Sweat Glands
Many individuals affected by ED syndromes cannot perspire. Their sweat glands may function abnormally or may not have developed at all. Without normal sweat production, the body cannot regulate temperature properly. Therefore, overheating is a common problem, especially during hot weather. Access to cool environments is important.

Teeth
Abnormalities in the development of tooth buds usually result in missing teeth or in the growth of teeth that are peg-shaped or pointed. The enamel may also be defective. Dental treatment almost always is necessary and children may need dentures as early as two years of age. Multiple denture replacements are often needed as the child grows, and dental implants may be an option in adolescence. In other cases, teeth can be capped. Orthodontic treatment also may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.

Other Features
In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects. Professional eye care can help minimize the effects of ED on vision. Similarly, abnormalities in the development of the ear may cause hearing problems. Respiratory infections can be more common because the normal protective secretions of the mouth and nose are not present. Precautions must be taken to limit infections.

Is there a cure for ED?
There is no cure for ED, but many treatments are available to address the symptoms. Research is ongoing to learn more about how genes cause ED syndromes, what may be done to prevent such disorders in the future, and how to better treat those who are affected. 

Because the disorders are complex, a team of doctors and dentists, rather than a sole practitioner, typically provide care for individuals affected by ED syndromes. 

How do the ED syndromes affect someone's daily life?
Emotionally, the ED syndromes can be challenging for affected individuals. One of the purposes of the National Foundation for Ectodermal Dysplasias is to reach out to individuals and families affected by ED syndromes and help them live full, productive lives. There are thousands of successful, well-adjusted, contented people living with this disorder. The emotional pain of ectodermal dysplasia can be overcome with one's own inner resources, sound medical facts, and the support of others. Sometimes professional counseling is needed to develop self-confidence and positive self-image.