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Ectodermal Dysplasia

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Definition: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.     
Examples Ectodermal Dysplasia 1, Anhidrotic; Ectodermal Dysplasia 3, Anhidrotic; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive; Ellis-Van Creveld Syndrome; Focal Dermal Hypoplasia; Neurocutaneous Syndromes
Other names Anhidrotic Ectodermal Dysplasias; Hydrotic Ectodermal Dysplasia; Ectodermal Dysplasia Anhidrotic; Defect, Congenital Ectodermal; Congenital Ectodermal Defect; Anhydrotic Ectodermal Dysplasia; Hidrotic Ectodermal Dysplasia; Ectodermal Defect, Congenital; Clouston's Syndrome; Aplasia Cutis Congenita; Anhidrotic Ectodermal Dysplasia; Syndrome, Clouston's; Hydrotic Ectodermal Dysplasias; Hidrotic Ectodermal Dysplasias; Ectodermal Dysplasias, Hydrotic; Ectodermal Dysplasias, Hidrotic; Ectodermal Dysplasias, Anhydrotic; Ectodermal Dysplasias, Anhidrotic; Ectodermal Dysplasias; Ectodermal Dysplasia, Hydrotic
 
SubstanceCAS Registry & nameCategoriesSource
NEMO mutation with immunodeficiency  0   *Ectodermal Dysplasia *Immunologic Deficiency Syndromes *Genetic Diseases, X-Linked.
Naegeli syndrome  0   *Ectodermal Dysplasia *Hypohidrosis *Keratoderma, Palmoplantar.
Anal sphincter dysplasia  0   *Constipation *Ectodermal Dysplasia *Encopresis *Fecal Incontinence Anal Canal/abnormalities.
Adams Oliver syndrome  0   *Ectodermal Dysplasia *Scalp Dermatoses/congenital *Limb Deformities, Congenital.
Ladda Zonana Ramer syndrome  0   *Arthrogryposis *Cleft Palate *Ectodermal Dysplasia *Growth Disorders.
Propping Zerres syndrome  0   *Anodontia *Ectodermal Dysplasia *Lacrimal Duct Obstruction *Nails, Malformed *Pigmentation Disorders *Limb Deformities, Congenital Breast/abnormalities.
Ectodermal dysplasia mental retardation syndactyly  0   *Ectodermal Dysplasia *Intellectual Disability *Syndactyly.
Ectodermal dysplasia alopecia preaxial polydactyly  0   *Alopecia *Ectodermal Dysplasia *Polydactyly *Facies.
Ectodermal dysplasia adrenal cyst  0   *Adrenal Gland Diseases *Cysts *Ectodermal Dysplasia.
Ectodermal dysplasia 2, hidrotic  0   *Ectodermal Dysplasia.
Madokoro Ohdo Sonoda syndrome  0   *Ectodermal Dysplasia *Ectromelia Nasolacrimal Duct/abnormalities.
Aplasia cutis congenita intestinal lymphangiectasia  0   *Ectodermal Dysplasia *Lymphangiectasis, Intestinal.
Odontoonychodermal dysplasia  0   *Ectodermal Dysplasia *Odontodysplasia.
Odontomicronychial dysplasia  0   *Ectodermal Dysplasia *Nail Diseases *Tooth Abnormalities.
Basan syndrome  0   *Ectodermal Dysplasia *Nails, Malformed.
Seres-Santamaria Arimany Muniz syndrome  0   *Cleft Palate *Ectodermal Dysplasia Eyelids/abnormalities.
Sener syndrome  0   *Cysts *Brain Diseases *Ectodermal Dysplasia *Craniofacial Abnormalities.
Arthrogryposis and ectodermal dysplasia  0   *Arthrogryposis *Ectodermal Dysplasia.
AREDYLD Syndrome  0   *Ectodermal Dysplasia *Diabetes Mellitus, Lipoatrophic *Tooth Abnormalities.
Bustos Simosa Pinto Cisternas syndrome  0   *Ectodermal Dysplasia.
Brunoni syndrome  0   Radius *Dwarfism *Ectodermal Dysplasia *Facies Thumb/abnormalities.
Pinheiro Freire-Maia Miranda syndrome  0   *Anodontia *Ectodermal Dysplasia *Nails, Malformed. Clin Genet. 1986;29(4):332-6
Focal facial dermal dysplasia  0   *Ectodermal Dysplasia.
Taurodontia absent teeth sparse hair  0   *Anodontia *Ectodermal Dysplasia.
Aplasia cutis congenita of limbs recessive  0   *Choanal Atresia *Ectodermal Dysplasia.
Zlotogora syndrome  0   *Cleft Palate *Ectodermal Dysplasia *Intellectual Disability *Syndactyly.
Yunis Varon syndrome  0   *Cleidocranial Dysplasia *Ectodermal Dysplasia *Micrognathism *Limb Deformities, Congenital.
Alves Castelo dos Santos syndrome  0   *Ectodermal Dysplasia.
Trueb Burg Bottani syndrome  0   *Ectodermal Dysplasia *Syndactyly *Monilethrix.
Trichoscyphodysplasia  0   *Ectodermal Dysplasia *Osteochondrodysplasias.
Trichodental syndrome  0   *Ectodermal Dysplasia *Intellectual Disability *Microcephaly *Odontodysplasia.
Ectodermal dysplasia, ectrodactyly, and macular dystrophy  0   *Corneal Dystrophies, Hereditary *Ectodermal Dysplasia *Hand Deformities, Congenital.
Ectrodactyly-cleft lip/palate syndrome  0   *Cleft Lip *Cleft Palate *Ectodermal Dysplasia.
Ectodermal dysplasia/ skin fragility syndrome  0   *Ectodermal Dysplasia *Skin Diseases.
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features  0   *Ectodermal Dysplasia *Hearing Loss, Sensorineural *Facies.
Ectodermal dysplasia, hypohidrotic, with immune deficiency  0   *Ectodermal Dysplasia *Immunologic Deficiency Syndromes.
Ectodermal dysplasia, hidrotic, Christianson-Fourie type  0   *Ectodermal Dysplasia.
Jones Hersh Yusk syndrome  0   *Ectodermal Dysplasia *Craniofacial Abnormalities.
Johanson Blizzard syndrome  0   *Deafness *Ectodermal Dysplasia *Hypothyroidism *Pancreatic Diseases Nose/abnormalities.
Robinson Miller Bensimon syndrome  0   *Ectodermal Dysplasia *Hearing Loss, Sensorineural.
Hay-Wells syndrome  0   *Cleft Lip *Cleft Palate *Ectodermal Dysplasia *Eye Abnormalities Eyelids/abnormalities.
Hay Wells syndrome recessive type  0   *Cleft Lip *Cleft Palate *Ectodermal Dysplasia Eyelids/abnormalities.
Euhidrotic ectodermal dysplasia  0   *Ectodermal Dysplasia *Hyperopia *Tooth Abnormalities.
Congenital ectodermal dysplasia with hearing loss  0   *Contracture *Ectodermal Dysplasia *Hearing Loss, Sensorineural Fingers/abnormalities.
Freire-Maia odontotrichomelic syndrome  0   *Ectodermal Dysplasia *Limb Deformities, Congenital.
Halal Setton Wang syndrome  0   *Ectodermal Dysplasia.
Cardiofaciocutaneous syndrome  0   *Ectodermal Dysplasia *Failure to Thrive *Heart Defects, Congenital *Facies.
Contractures ectodermal dysplasia cleft lip palate  0   *Arthrogryposis *Cleft Palate *Ectodermal Dysplasia *Growth Disorders.
Epidermolysis bullosa with pyloric atresia  0   *Ectodermal Dysplasia.
Dermatoosteolysis Kirghizian type  0   *Anodontia *Ectodermal Dysplasia *Keratitis *Osteolysis *Skin Ulcer/congenital.
Cerebellar ataxia ectodermal dysplasia  0   *Cerebellar Ataxia *Ectodermal Dysplasia.
Rapp-Hodgkin syndrome  0   *Cleft Lip *Cleft Palate *Ectodermal Dysplasia.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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