MeSH Browser

MeSH Supplementary: Ehlers-Danlos Syndrome, musculocontractural type 1
Unique ID: C000600608
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C000600608
Entry Term(s): Adducted Thumb-Clubfoot Syndrome; Adducted thumbs Dundar type; Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis
Registry Number: 0
Heading Mapped to: *Ehlers-Danlos Syndrome
Frequency: 3
Note: An autosomal recessive form of Ehlers-Danlos syndrome characterized by craniofacial dysmorphism, congenital CONTRACTURES of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular HYPOTONIA, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Mutations in the CHST14 gene have been identified. OMIM: 601776
Date of Entry: 2015/09/25
Revision Date: 2015/09/25

Ehlers-Danlos Syndrome, musculocontractural type 1 MeSH Supplementary Concept Data 2024