Carney complex - trismus - pseudocamptodactyly syndrome
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).
MONDO:0015285
Carney complex
is_a
MONDO:0016432
heart-hand syndrome
is_a
Carney complex variant
exact
SPAC4A8.05c SPCC645.05c