Carney complex-trismus-pseudocamptodactyly syndrome

Orpha code: 319340OMIM code: 608837

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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