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GTR Home > Conditions/Phenotypes > Carney complex - trismus - pseudocamptodactyly syndrome

Carney complex - trismus - pseudocamptodactyly syndrome

Synonyms
Carney complex variant

Summary

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). [from ORDO]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DA7, MyHC-peri, MyHC-pn, gtMHC-F, MYH8
    Summary: myosin heavy chain 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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