The 100+ ectodermal dysplasias are recognized 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.
Classifying Each Syndrome
Visit the pages below to learn more about each particular syndrome. These syndromes represent the largest groups of people who are registered with NFED with that type.
- Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome
- Clouston Syndrome
- Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
- Fried Syndrome
- Goltz Syndrome
- Hypohidrotic Ectodermal Dysplasia (HED)
- Incontinentia Pigmenti (IP)
- Oculodentodigital Dysplasia (ODD)
- Tricho-Dento-Osseous (TDO) Syndrome
- Trichorhinophalangeal (TRP) Syndrome, Type 1
- Trichorhinophalangeal (TRP) Syndrome, Type 2
- 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. They 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. Learn more about type unknown.
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
- 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, Congenital, and Onychodystrophy, Autosomal Dominant
- Deafness, Onychodstrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome
- Dermatoosteolysis, Kirghizian Type
- Dermoodontodysplasia
- Dubowitz Syndrome
- Ectodermal Dysplasia 4, Hair/Nail Type
- Ectodermal Dysplasia and Neurosensory Deafness
- Ectodermal Dysplasia with Adrenal Cyst
- 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
- Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate (EEC) Syndrome 1
- Focal Dermal Hypoplasia / Goltz Syndrome
- 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
- Johanson-Blizzard Syndrome
- Johnson Neuroectodermal Syndrome
- Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
- Kohlschutter-Tonz Syndrome
- Limb-Mammary Syndrome
- Marshall Syndrome
- Mucoepithelial Hysplasia, Hereditary
- Naegeli Syndrome
- Oculodentodigital Dysplasia
- Oculotrichodysplasia
- Odonoonychodermal Dysplasia
- Ondontomicronychial Dysplasia
- Onychotrichodysplasia and Neutropenia
- Pachyonychia Congenita 1
- Pachyonychia Congenita 2
- Pili Torti and Developmental Delay
- Pilodental Dysplasia with Refractive Errors
- Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes
- Rapp-Hodgkin Syndrome
- Rosselli-Gulienetti Syndrome
- Scalp-Ear-Nipple Syndrome
- Schinzel-Giedion Midface Retraction Syndrome
- Schopf-Schulz-Passarge Syndrome
- Sener Syndrome
- 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
- 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