Carney complex-trismus-pseudocamptodactyly syndrome

Orpha code: 319340OMIM code: 608837

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).

Disease data
Classification

Disease

Synonyms
Carney complex variant
Wariant kompleksu Carney'a
ORPHA code
319340
OMIM code
608837
ICD10 code
Q68.8
ICD11 code
-

No additional description.

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