Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
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Description
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Psychomotor retardation |
| Scapulohumeral muscular dystrophy |
| Choanal atresia |
| Motor deterioration |
| X-linked inheritance |
| Congenital contracture |
| Ectodermal dysplasia |
| Growth delay |
| Oral cleft |
Fairview Heights, IL, 62258-1360, United States Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
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