Disease association ontology term - MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome
Term summary
- ID
- MONDO:0012137
- Name
- Carney complex - trismus - pseudocamptodactyly syndrome
- Ontology or CV name
- Disease association
- Definition
- Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
