National Foundation for Ectodermal Dysplasias

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ectodermal dysplasias through education, support, and research.

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Types of Ectodermal Dysplasias

Ectodermal dysplasia is not a single disorder. It is a group of heritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. More than 100 different ectodermal dysplasias have been described by Newton Freire-Maia and Marta Pinheiro in their book, Ectodermal Dysplasias: A Clinical And Genetic Study.

What Type of Ectodermal Dysplasia is it?

To make a diagnosis of ectodermal dysplasia, physicians and dentists evaluate which ectodermal structures are involved. The doctors may also look for physical features that do not develop from the ectoderm (the bones, for instance). By noticing patterns of physical features in children, doctors are often able to make correct diagnoses and help families cope with their situations and seek proper medical care.

A correct diagnosis is necessary for prognosis. To anticipate what kinds of problems an individual with ectodermal dysplasia may have or to reduce concern about what problems may or, indeed may not arise, doctors must know the natural history of the specific condition. 

Many individuals with ectodermal dysplasia may be given a correct diagnosis eventually. There are, however, some individuals who do not fit neatly into one or another recognized category. In other words, there always seem to be individuals with the label “ectodermal dysplasia - type unknown”. This situation may be frustrating for families. Failure to reach diagnosis has several explanations. First, some genetic conditions are unique; they result from a change in a gene that has occurred only in the one individual and for which there is no precedent. Second, some diagnoses are not clear because the affected individual has a physical feature that is not generally considered part of ectodermal dysplasia. An incidental congenital heart defect in a child with Christ-Siemens-Touraine syndrome, for instance, may steer the doctor away from the correct diagnosis unless proper consideration is given to the possibility that the two conditions coexist by coincidence. Third, even within a specific type of ectodermal dysplasia, not all affected individuals will have exactly the same features to the same degree. Fourth, the medical literature may be biased and may describe only severely affected individuals or those with unusual findings; as a result, individuals with mild features of a known ectodermal dysplasia may escape notice or may not be diagnosed promptly.

Absence of Dermal Ridge Patterns, Onychodystrophy, and Palmoplantar Anhidrosis
Acrorenal-Ectodermal Dysplasia-Lipoatrophic Diabetes(AREDYLD)Syndrome
Agammaglobulinemia-Dwarfism-Ectodermal Dysplasia
Agammaglobulinemia-Thymic Dysplasia-Ectodermal Dysplasia
Alopecia Universalia-Onychodystrophy-Total Vitiligo
Amelocerebrohypohidrotic Syndrome
Ameloonychohypohidrotic Dysplasia
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate (AEC) Syndrome (also known as Hay Wells Syndrome)
Anonychia With Bizarre Flexural Pigmentation
Arthrogryposis and Ectodermal Dysplasia
Baisch’s Syndrome
Book’s Dysplasia
Camarena Syndrome
Carey’s Syndrome
Christ-Siemens-Touraine’s (CST) Syndrome (also known as Hypohidrotic Ectodermal Dysplasia)
Coffin-Siris’s Syndrome
Congenital Insensitivity to Pain With Anhidrosis
Congenital Lymphedema, Hypoparathyroidism, Nephrotathy, Prolapsing
Mitral Valve, and Brachytelephalangy
Cranioectodermal Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia (CHANDS)
Cystic Eyelids-Palmoplantar Keratosis-Hypodontia-Hypotrichosis
Dentooculocutaneous Syndrome
Dermotrichic Syndrome
Dyskeratosis Congenita
Ectodermal Defect With Skeletal Abnormalities
Ectodermal Dysplasia of the Head
Ectodermal Dysplasia With Palatal Paralysis
Ectodermal Dysplasia With Severe Mental Retardation
Ectodermal Dysplasia With Syndactyly
Ectodermal Dysplasia Syndrome With Tetramelic Deficiencies
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate (EEC) Syndrome
Ellis-Van Creveld’s Syndrome
Fischer-Jacobsen-Clouston’s Syndrome (also known as Clouston’s Syndrome)
Fischer’s Syndrome
Focal Dermal Hypoplasia (FDH) Syndrome
Fried’s Tooth and Nail Syndrome
Gingival Fibromatosis and Hyperrtrichosis
Gingival Fibromatosis-Sparse Hair-Malposition of Teeth
Gorlin-Chaudhry-Moss’ Syndrome
Growth Retardation-Alopecia-Pseudoanodontia-Optic Atrophy(GAPO)
Hallermann-Streiff’s Syndrome
Hairy Elbows Dysplasia
Hayden’s Syndrome
Haywells Syndrome
Hypertrichosis and Dental Defects
Hypodontia and Nail Dysgenesis
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic Ectodermal Dysplasia - Autosomal Recessive
Hypohidrotic Ectodermal Dysplasia With Hypothyroidism
Hypohidrotic Ectodermal Dysplasia With Papillomas and Acanthosis Nigricans
Hypomelanosis of Ito
Ichthyosiform Erythroderma-Deafness-Keratitis
Incontinentia Pigment I
Johanson-Blizzard’s Syndrome
Jorgenson’s Syndrome
Kirghizian Dermatoosteolysis
Lenz-Passarge’s Dysplasia
Marshall’s Syndrome I
Mesomelic Dwarfisn-Skeletal Abnormalities-Ectodermal Dysplasia
Mikaelian’s Syndrome
Naefeli-Franceschetti-Jadassohn’s Dysplasia
Oculodentodigital (ODD) Syndrome I
Oculodentodigital (ODD) Syndrome II
Oculoosteocutaneous Syndrome
Odontoonychodermal Dysplasia
Odontoonychodysplasia With Alopecia
Odontoonychohypohidrotic Dysplasia With Midline Scalp Defect
Odontotrichomelic Syndrome
Onychotrichodysplasia With Neutropenia
Orofaciodigital (OFD) Syndrome I
Osteosclerosis and Ectodermal Dysplasia
Pachyonychia Congenita
Palmoplantar Hyperkeratosis and Alopecia
Papillon-Lefevre’s Syndrome
Pili Torti and Enamel Hypoplasia
Pili Torti and Onychodysplasia
Rapp-Hodgkin’s Syndrome
Regional Ectodermal Dysplasia With Total Bilateral Cleft
Robinson’s Syndrome
Rosseli-Gulienetti’s Syndrome
Rothmund-Thomson’s Syndrome
Sabinas Brittle Hair and Mental Deficiency Syndrome
Salamon’s Syndrome
Schinzel-Giedion’s Syndrome
Skeletal Anomalies-Ectodermal Dysplasia-Growth and Mental Retardation
Syndrome of Accelerated Skeletal Maturation, Failure to Thrive, and Peculiar Face
Trichodental Dysplasia
Trichodentoosseous (TDO) Syndrome I
Trichodentoosseous (TDO) Syndrome II
Trichodentoosseous (TDO) Syndrome III
Trichofaciohypohidrotic Syndrome
Trichooculodermovertebral Syndrome
Trichoodontoonychial Dysplasia
Trichoodontoonychodermal Syndrome
Trichoodontoonychodysplasia With Pili Torti
Trichoodontoonycho-Hypohidrotic Dysplasia With Cataract
Trichoonychodental (TOD) Dysplasia
Trichoonychodysplasia With Xeroderma
Trichorhinophalangeal (TRP) Syndrome I
Triphalangeal Thumbs-Onychodystrophy-Deafness
Walbaum-Deheane-Schlemmer’s Syndrome
Xeroderma-Talipes-Enamel Defect
Zanier-Roubicek’s Syndrome

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