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trismus-pseudocamptodactyly syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature.
Mondo Term and Equivalent IDs
MONDO:0008016:  trismus-pseudocamptodactyly syndrome
GARD:0002621: 
MESH:C535857: 
Orphanet:3377: 
SCTID:8757006: 
UMLS:C0265226: