10* More Rare Ectodermal Dysplasias

Join us on February 28 to celebrate Wold Rare Disease Day!

Join us on February 28 to celebrate Wold Rare Disease Day!

All of the 180+ different types of ectodermal dysplasias are considered “rare” because they affect less than 200,000 people in the United States. But some of the syndromes are much more rare than others. Here is a sampling of 10 that fall into that latter category.

Book’s Syndrome – 1 person

Signs and symptoms include failure of premolars to develop; excessive sweating; and premature graying of the hair.

Coffin-Siris’s Syndrome – 1 person

Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking.

Underdevelopment of the tips of the fingers or toes, or hypoplasia or absence of the nails also occurs. Most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body, but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head.

Cranioectodermal Dysplasia – 1 person

Cranioectodermal dysplasia affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead and an elongated head due to abnormal fusion of certain skull bones.

A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes, and outside corners of the eyes that point upward or downward among others. Development of bones in the rest of the skeleton is also affected in this condition. Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin. It can affect additional organs and tissues in the body and include abnormalities of the liver, heart, or eyes.

Hypomelanosis of Ito – 1 person

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color. These skin changes may present as patches, streaks or spiral-shaped areas. There are a wide variety of symptoms potentially associated with hypomelanosis of Ito. Neurological findings such as seizures and developmental delays and musculoskeletal symptoms such as abnormal curvature of the spine are commonly associated with this condition.

Because of the neurological and skin symptoms, hypomelanosis of Ito may be referred to as a “neurocutaneous” syndrome. However, in many cases the condition arises from genetic irregularities that are present in some cells of the body, but not in others. Some researchers believe that hypomelanosis of Ito does not represent a distinct disorder but rather a symptom common to a group of disorders involving genetic mosaicism.

Trichodental Dysplasia – 1 person

Trichodental dysplasia includes missing teeth, peg-shaped incisors, and shell teeth.  The hair is fine, sparse, dull, and slow growing. Mild microcephaly and mental retardation may occur.

GAPO – 1 person

The GAPO syndrome is a rare but distinct genetic disorder. GAPO is an acronym for the manifestation of growth retardation, alopecia, pseudoanodontia and optic atrophy. Symptoms of GAPO affect the hair, teeth, eyes, skin, and face. Specifically, GAPO syndrome is characterized by reduced birth length, alopecia (hair loss from the scalp or body), failure of the teeth to erupt from the gums, and loss of some or all of the fibers of the optic nerve, a condition known as optic atrophy. The optic nerve carries visual information from the eye to the occipital lobe in the brain, which then processes the information. In addition, physical growth is delayed. Symptoms such as reduced birth length can be observed at birth

Gorlin-Chaudhry-Moss’ Syndrome (Gorlin’s Syndrome) – 1 person

GCM is characterized by premature closure of the fibrous joints, or sutures, between certain bones in the skull, unusually small eyes, absence of some teeth, and excessive amounts of hair) on most areas of the body. In addition, growth retardation, short fingers and toes, and underdevelopment of the two long folds of skin on either side of the vaginal opening in females can occur.

There may be an abnormal opening between the two large blood vessels that carry blood away from the heart which can cause patent ductus arteriosus, an inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body. Some people with GCM may have delayed growth and hearing loss. Some may have mild intellectual disabilities, while others may be of normal intelligence.

Johanson-Blizzard’s Syndrome – 1 person

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. Characteristic features include insufficient intestinal absorption of fats and other nutrients due to abnormal development of the pancreas; failure to thrive during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial region including a small “beak-shaped” nose; and/or varying degrees of intellectual disability.

Odontoonychodermal Dysplasia Syndrome – 1 person

Symptoms include dystrophic nails, misshapen teeth, including peg-shaped incisors, and erythematous lesions of face and thickening of the palms and soles which showed hyperhidrosis. The hair can be unaffected or dry and sparse with thinning of the eyebrows.

Papillion-Lefevre’s Syndrome – 1 person

Papillon-Lefèvre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles, in association with severe inflammation and degeneration of the structures surrounding and supporting the teeth. The primary teeth frequently become loose and fall out by about age five. Without treatment, most of the secondary teeth may also be lost by approximately age 17. Additional symptoms and findings associated with PLS may include frequent pus-producing skin infections, abnormalities of the nails, and excessive perspiration.

 * The numbers of people affected are taken from the NFED database and not based on medical literature. Like all ectodermal dysplasias, we are confident that more people are affected by these types. However, they are not in touch with the NFED.

Be Happy That You Are You

You are who you are for a reason.  You’re part of an intricate plan. 
Be happy that you are you.  We certainly are!

Be Happy You Are You

I remember as I was growing up thinking, “Gee, I wish I was more athletic, prettier or smarter.”  Even now, I wish I was shorter so I could wear those sexy, stiletto heels!

When I was raising my children, one wanted to be taller, one shorter, one smarter, one more outgoing, and one more athletic.

Why are we always wishing for something we don’t have?  Who knows!  All of my children grew up to be very successful, beautiful and wonderful individuals.

I have come to realize that I will never wear those 4-inch heals unless I want to rub heads with the ceiling.  And, really, is that so important anyway?

Sometimes we feel like we just don’t have enough, whether it’s money, time, romance, physical attributes or really anything that might cause us to be dissatisfied or unhappy.  However, we all realize that everyone has their battles and the grass is always greener and yadda, yadda, yadda. But, how do you really accept who you are and the hand you’ve been given?

With strong determination, persistence of mind and a good support system, being unhappy with what you have won’t even be a consideration or thought.

During this Ectodermal Dysplasias Awareness Month,  I am looking at all of the beautiful faces of ectodermal dysplasias; all of the beautiful children, all of the wonderful men and women who live with the conditions every day.  You know much better than I do the challenges you face day in and day out.

Every day, you make the world a better place in spite or because of your challenges.

You and your family are important to us and to each other.  We need you.  You have so much to offer to make a difference in the world and your organization, the NFED.

Help us continue to grow the NFED into a strong leader in treatment and research.  Help us continue to support individuals and families in need.

Working together is vital to our success and makes us all stronger.  The human body is a blob of cells; all of these cells are vitally important so the body functions well.  Each cell is important and the body depends on all of them.

Each and every one of you are important to us and to the ectodermal dysplasia community.  Together, we are strong. Together we can move mountains and do great things.

“The whole is greater than the sum of its parts.”  ~ Aristotle

Be happy that you are you!  Celebrate your successes and share them with us.  Join us in celebrating the NFED’s accomplishments and help us attack our challenges.

Please contact me. I would love an opportunity to get to know you, share what is going on at the NFED and make you part of our plan.

Be happy that you are you.  We certainly are!

Top 10* Most Common Ectodermal Dysplasias

* The numbers are taken from the National Foundation for Ectodermal Dysplasias (NFED) database and are not based on medical literature. There are more than 180 distinct types of ectodermal dysplasias cited in the literature.

1. Ectodermal Dysplasia, Specific Type is Unknown by the NFED – 3,168 People

Bentley, Syndrome Unknown

Bentley, Syndrome Unknown


Almost half of the people on the NFED database reported having “ectodermal dysplasia” and didn’t report being diagnosed with a specific type. This is why the NFED has worked to develop a classification system for the ectodermal dysplasias which would help improve diagnosis. Without a specific diagnosis, affected individuals can still treat their symptoms. However, it’s important to know what specific type affects the individual for family planning purposes in order to stand the inheritance risks.

2. X-linked Hypohidrotic Ectodermal dysplasia (XLHED) – 1,763 people

Aidan, XLHED

Hypohidrotic ectodermal dysplasia (HED) is characterized by a reduced ability to sweat, missing teeth, and fine sparse hair. Individuals affected by HED share a similar facial appearance with thin, dark skin beneath the eye with extra folds or wrinkles, a depressed “saddle” nose, small narrow jaw, and small pointed teeth. Eruption of the teeth may be delayed, or only a few teeth may erupt. Additional features include dry eyes, eczema, asthma, ear wax impaction, dry nasal concretions, respiratory illness, sinusitis, or sparseness of saliva. HED may be inherited in one of three patterns: X-linked recessive, autosomal recessive and autosomal dominant.

3. Hypohidrotic Ectodermal Dysplasia (Patients didn’t know which of the 3 types they have. Typically, 95% of HED is XLHED.) – 900

Andrew, HED

Andrew, HED

See description for XLHED.

4. Ectrodactyly-Ectodermal Defects-Clefting (EEC) Syndrome – 336 people

Norma, EEC

Norma, EEC

EEC syndrome is a type of ectodermal dysplasia in which there is congenital absence of some of the fingers or toes, features of ectodermal dysplasia, and cleft lip or palate. While both hands and both feet are usually involved, exceptions have been noted. Abnormalities in the development of tear ducts can cause excessive tearing or a failure of the tear glands to develop may cause inflammation of the eyelids, cornea, and conjunctiva. Intolerance of light (photophobia) may occur. Skin and hair may be more lightly pigmented than normal, and a variety of hair problems may be experienced, from sparse hair to thick, unruly hair. The nails in some, but not all, people with the disorder may be abnormal. Various renal problems have been identified in individuals affected by EEC, but great variation in the type and severity exist. The most obvious abnormalities of the oral cavity include cleft palate with or without cleft lip. Congenital absence of teeth and pointed teeth are common. Conductive hearing loss (not nerve deafness) even without ear malformations has been noted in some individuals. EEC syndrome is inherited as an autosomal dominant disorder.

5. Clouston Syndrome– 194 people

Joshua, Clouston syndrome

Joshua, Clouston syndrome

Clouston syndrome is characterized by thick nails that grow slowly, sparse hair, thickness of the skin over the palms and soles, dark skin over the knees and elbows, white patches on the inside of the cheeks, thin eyebrows (outer portion only), and a reduced number of eyelashes. Individuals with this type have normal teeth and sweat normally. Intelligence is normal. Clouston syndrome is frequently called hidrotic ectodermal dysplasia because affected individuals sweat normally and exhibit no heat intolerance. Clouston syndrome is inherited as an autosomal dominant disorder.

6. Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC Syndrome) – 159 people

Najah, AEC syndrome

Najah, AEC syndrome

AEC syndrome, which includes the Rapp-Hodgkin syndrome, is characterized by ankyloblepharon (fused eyelids); sparse, wiry hair; skin erosions; unique pigmentary changes; nail changes; dental changes; subjective decrease in sweating capacity; and cleft lip/palate. Nearly 100% of affected babies have superficial skin erosions that range from very limited to severe, even life-threatening, full body involvement. Scalp erosions at birth and during infancy are typical and, when severe, can lead to scarring alopecia and hypotrichosis. Limb anomalies are also common. AEC syndrome is inherited as an autosomal dominant disorder.

7. Tooth and Nail Syndrome – 141 people

Lucy, Tooth and Nail Syndrome

Lucy, Tooth and Nail Syndrome

Individuals with the “tooth and nail” syndrome sweat and tolerate heat normally. Nails are spoon-shaped (concave), thin, and grow slowly. Many teeth are congenitally absent, but rarely are more than 20 permanent teeth missing. The teeth which are present may be peg-shaped or smaller than normal. Baby teeth may be retained until adulthood if they have no permanent successors. The density of scalp hair varies from normal to sparse, and the hair itself may be lightly pigmented. No other medical problems have been noted in patients affected by “tooth and nail” syndrome. Intelligence is normal. There are at least two types of “tooth and nail” syndrome: the Fried syndrome and the Witkop syndrome. The Fried syndrome is an autosomal recessive disorder, while the Witkop syndrome is an autosomal dominant disorder. Consequently, family history may be necessary to know the type a particular individual has.

8. Focal Dermal Hypoplasia (FDH) (also known as Goltz syndrome) – 94 people

Dylan, Goltz syndrome

Dylan, Goltz syndrome

Goltz syndrome has characteristic findings in the skin, ranging from small areas of absent skin to small areas of thin skin, especially on the scalp. The areas of defective skin may be abnormally pigmented, and fatty tissue may protrude through them. Frequently, affected individuals have lumps of raised tissue on the lips, gums, and base of tongue and around the mouth, anus, vulva, groin and arm pits. Affected individuals have absent, poorly developed, spoon-shaped, or grooved nails. While some affected individuals do not sweat normally over their entire bodies, their palms and soles may sweat excessively. Individuals with Goltz syndrome may have patches of hair loss on the scalp and pubis. Dental abnormalities may include irregular position of teeth, poor enamel, and malformed teeth. Other findings include asymmetry of the face, malformed ears, pointed chin, and wide-set eyes. Abnormal development of the eye, small eyes, and colobomas of the iris and the choroids, may occur. Frequently, fusion of fingers and toes and other abnormalities of the fingers or toes may be noted. Hearing loss has been reported, as have heart and kidney defects. Hernias and mental retardation are occasional features. It is usually, but not always, X-linked dominant (lethal in males). About 90% of affected individuals are female.

9. Incontinentia Pigmenti (IP) – 74 people

Hannah, IP

Hannah, IP

IP is a skin disorder characterized by blister-like lesions over the skin shortly after birth. There is great dispute in the medical world about whether or not IP is an ectodermal dysplasia. The lesions gradually change character, and marbled hyperpigmentation appears in early childhood. The areas of hyperpigmentation may fade during the second and third decades of life. By mid-life, affected adults have mild pigmentary changes only, including small areas of decreased pigmentation. People with IP may have missing or malformed teeth, patches of absent scalp hair, some learning disabilities, occasional seizures, and various problems with their eyes (the retinas) and their bones. Their nails also may be poorly formed. IP affects females almost exclusively (99%) and is caused by a gene carried on the X-chromosome that is lethal to males who inherit it.

10. Autosomoal Dominant Hypohidrotic Ectodermal Dysplasia (ADHED) – 58 people

George, ADHED

George, ADHED

See description for XLHED.


February is Ectodermal Dysplasias Awareness Month. NFED.org

14 Things You Didn’t Know About Ectodermal Dysplasias

  1. The first descriptions of clinical cases that might correspond to what we would now classify as ectodermal dysplasias date from 1792.
  2. Charles Darwin also cited cases of ectodermal dysplasia in a book he published in 1875.

    charles darwin

    Charles Darwin

  3. In 1929, Dr. A. A. Weech was the first to coin the term “ectodermal dysplasia” in the medical literature.
  4. The condition is defined by abnormalities in two or more of the following: hair, teeth, nails, skin and sweat glands.
  5. Ectodermal dysplasias can also affect parts of the eye, ear or other organs and body features which develop from the ectoderm.
  6. There are more than 180 different types of ectodermal dysplasias cited in the medical literature.
  7. Only 49 of the 180 syndromes are represented by families who are on the NFED’s database.
  8. 44% of the people the NFED is in touch with have only been diagnosed as having “ectodermal dysplasia” and do not know which specific syndrome affects them.
  9. The conditions affect both men and women and all races.
  10. An estimated 1 in 10,000 births results in an ectodermal dysplasia.
  11. Symptoms can range from mild to severe.
  12. The ectodermal dysplasias can be passed from mom to son, mom to daughter, dad to son, dad to daughter. How it is inherited depends on what ectodermal dysplasia syndrome the family has.

    The ectodermal dysplasias can be passed down from generation to generation.

    The ectodermal dysplasias can be passed down from generation to generation.

  13. The ectodermal dysplasia might be new in a child and neither parent has the gene for it.
  14. Scientists are testing a potential treatment for the most common type, XLHED, in babies right now in a clinical trial.

February is Ectodermal Dysplasias Awareness Month. Help us spread the word by clicking on the icons below to share this post!