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://www.orphadata.org. Data version April 2024
Newly diagnosed with
Arthrogryposis-ectodermal dysplasia syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.