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Ehlers-Danlos Syndrome, musculocontractural type 1 MeSH Supplementary Concept Data 2022


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 Preferred
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