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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1484
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Global developmental delay|
|Arthrogryposis multiplex congenita|
|Plantar crease between first and second toes|
|Redundant neck skin|
|Lethal short-limbed short stature|
|Limitation of joint mobility|
|Non-midline cleft lip|
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