Don’t fight Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1484
Definition
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
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Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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An unknown % of people have these symptoms.
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Psychomotor retardation |
Scapulohumeral muscular dystrophy |
Choanal atresia |
Motor deterioration |
X-linked inheritance |
Congenital contracture |
Ectodermal dysplasia |
Growth delay |
Oral cleft |
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