Arthrogryposis-ectodermal dysplasia syndrome

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Arthrogryposis-ectodermal dysplasia syndrome

Synonyms: Stoll-Alembik-Finck syndrome

A rare genetic developmental defect during embryogenesis syndrome characterized by camptodactyly joint contractures with amyotrophy and ectodermal anomalies (oligodontia enamel abnormalities longitudinally broken nails hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching) as well as growth retardation kyphoscoliosis mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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