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Ehlers-Danlos syndrome, musculocontractural type
rareEhlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
- Identifiers
- MONDO:0011142 Orphanet:2953
- Part of
- Ehlers-Danlos syndromeCardiogenetic diseaseCongenital disorder of glycosylationDevelopmental anomaly of metabolic originDistal arthrogryposis
- Also known as
- adducted thumb clubfoot syndrome · adducted thumb, clubfoot, and progressive joint and skin laxity syndrome · adducted thumb-club foot syndrome · adducted thumb-clubfoot syndrome · adducted thumbs Dundar type
Subtypes
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