The 180+ ectodermal dysplasias are recognised and named based on the specific combination of symptoms shown in affected individuals.  The pattern of these features is important when a physician tries to make a formal diagnosis.

In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair.  Still another may have hearing loss and defects of the enamel of the teeth.  Each combination of abnormalities may be a distinct ectodermal dysplasia and will have a unique name.

Visit the pages below to learn more about each particular syndrome.  These syndromes represent the largest groups of people who are registered with the ED Society with that type.

• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC)
• Clouston Syndrome
• Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate (EEC) Syndrome 1
• Fried Syndrome
• Focal Dermal Hypoplasia / Goltz Syndrome
• Hypohidrotic Ectodermal Dysplasia, Autosomal Dominant (HED)
• Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive (HED)
• Hypohidrotic Ectodermal Dysplasia, X-Linked (XLHED)
• Oculodentodigital Dysplasia (ODD)
• Trichodentoosseous Syndrome (TDO)
• Trichorhinophalangeal Syndrome, Type I
• Trichorhinophalangeal Syndrome, Type II
• Witkop Syndrome

Ectodermal Dysplasia – Type Unknown

It is possible that a person could have a combination of symptoms that is unique to them and has not yet been described in the medical literature.  Or, the person is just told they are affected by ectodermal dysplasia.  The doctor might not know enough about the different types to give a specific diagnosis.  Or, the person was diagnosed at a time when we didn’t know as much about a particular type.

What is an unknown diagnosis?

There are hundreds of types of ectodermal dysplasias that have been identified and specifically named.  Even still, some individuals may not receive a diagnosis of a specific type of ectodermal dysplasia.

A diagnosis can be unknown for many reasons.  A few common reasons are below:

1. The collection of symptoms a person is experiencing does not fit into a classic description of one ectodermal dysplasia syndrome.
2. The person has not had genetic testing yet and their symptoms could fit more than one ectodermal dysplasia condition.
3. Genetic testing has been done, but did not result in a diagnosis.  Instead, results may have been negative (no mutations in the known genes tested causing ectodermal dysplasia) or uncertain (the gene showed a variant – or difference – but it is not known if this difference causesectodermal dysplasia or is just part of typical variation among our genes and has no effect.)

Other ectodermal dysplasia types:

• Ackerman Syndrome
• Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes
• Acto-Dermato-Ungual-Lacrimal-Tooth Syndrome
• Ameloonychohypohidrotic Syndrome
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC)
• Anonychia with Flexural Pigmentation
• Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly
• Arthrogryposis and Ectodermal Dysplasia
• Basan Syndrome
• Blepharocheilodontic Syndrome
• Book (Dysplasia) Syndrome
• Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
• Cahmr Syndrome
• Cardiofaciocutaneous Syndrome
• Cartilage-Hair Hypoplasia
• Chands
• Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
• Clouston Syndrome
• Coffin-Siris Syndrome
• Cooks Syndrome
• Corneodermatoosseous Syndrome
• Cranioectodermal Dysplasia 1
• Deafness with Anhidrotic Ectodermal Dysplasia
• Deafness, Conductive, with Ptosis and Skeletal Anomalies
• Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
• Deafness, Onychodstrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome
• Dermatoosteolysis, Kirghizian Type
• Dermoodontodysplasia
• Dubowitz Syndrome
• Dyskeratosis Congenita
• Dyskeratosis Congenita, Autosomal Dominant, 1
• Dyskeratosis Congenita, Autosomal Recessive, 1
• Ectodermal Dysplasia 4, Hair/Nail Type
• Ectodermal Dysplasia and Neurosensory Deafness
• Ectodermal Dysplasia Syndrome with Distinctive Facial Appearances and Preaxial Polydactyly of Feet
• Ectodermal Dysplasia with Adrenal Cyst
• Ectodermal Dysplasia with Mental Retardation and Syndactyly
• Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
• Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, and Lymphedema
• Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome
• Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
• Ectodermal Dysplasia, Trichoodontoonychial Type
• Ectodermal Dysplasia/Skin Fragility Syndrome
• Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
• Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate (EEC) Syndrome 1
• Focal Dermal Hypoplasia / Goltz Syndrome
• Focal Facial Dermal Dysplasia 1, Brauer Type
• Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type
• Focal Facial Dermal Dysplasia 3
• Gapo Syndrome
• Gorlin-Chaudhry-Moss Syndrome
• Hallermann-Streiff Syndrome
• Hearing Loss, Sensorineural, With Enamel Hypoplasia and Nail Defects
• Hypertrichosis, Congenital Generalized, With or Without Gingival Hyperplasia
• Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Agenesis of the Corpus Callosum
• Hypohidrotic Ectodermal Dysplasia, Autosomal Dominant
• Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive
• Hypohidrotic Ectodermal Dysplasia, With Hypothyroidism and Ciliary Dyskinesia
• Hypohidrotic Ectodermal Dysplasia, With Immune Deficiency
• Hypohidrotic Ectodermal Dysplasia, X-Linked
• Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
• Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
• IFAP Syndrome With or Without Bresheck Syndrome
• Incontinentia Pigmenti
• Johanson-Blizzard Syndrome
• Johnson Neuroectodermal Syndrome
• Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
• Kohlschutter-Tonz Syndrome
• Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
• Limb-Mammary Syndrome
• Marshall Syndrome
• Mohr Syndrome
• Monilethrix
• Mucoepithelial Hysplasia, Hereditary
• Naegeli Syndrome
• Oculodentodigital Dysplasia
• Oculotrichodysplasia
• Odonoonychodermal Dysplasia
• Ondontomicronychial Dysplasia
• Onychotrichodysplasia and Neutropenia
• Orofaciodigital Syndrome I
• Pachyonychia Congenita 1
• Pachyonychia Congenita 2
• Palmoplantar Keratoderma and Congenital Alopecia 2
• Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant
• Papillon-Lefevre Syndrome
• Pili Torti and Developmental Delay
• Pilodental Dysplasia with Refractive Errors
• Poikiloderma with Neutropenia
• Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes
• Rapp-Hodgkin Syndrome
• Rosselli-Gulienetti Syndrome
• Rothmund-Thomson Syndrome
• Sabinas Brittle Hair Syndrome
• Saethre-Chotzen Syndrome
• Scalp-Ear-Nipple Syndrome
• Schinzel-Giedion Midface Retraction Syndrome
• Schopf-Schulz-Passarge Syndrome
• Sener Syndrome
• Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
• Teeth, Congenital Absence of, with Taurodontia and Sparse Hair
• Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities
• Thumb Deformity and Alopecia
• Trichodental Dysplasia
• Trichodentoosseous Syndrome
• Trichoodontoonychial Dysplasia with Bone Deficiency
• Trichorhinophalangeal Syndrome, Type I
• Trichorhinophalangeal Syndrome, Type II
• Trichorhinophalangeal Syndrome, Type III
• Trichothiodystrophy 1, Photosensitive
• Trichothiodystrophy 2, Photosensitive
• Trichothiodystrophy 3, Photosensitive
• Trichothiodystrophy 4, Nonphotosensitive
• Trichothiodystrophy 5, Nonphotosensitive
• Ulnar-Mammary Syndrome
• Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly
• Weyers Acrofacial Dysostosis
• Witkop Syndrome
• Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears