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Carney complex - trismus - pseudocamptodactyly syndrome

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Description

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).

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

5

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Genes

External Links

  • OMIM

    608837

  • Orphanet

    319340

  • HPO
  • Medgen

    C1837245

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