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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).
Features include: Trismus, Distal arthrogryposis, and Cardiac myxoma.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 1 | Distal arthrogryposis |
Heart and blood vessels | 1 | Cardiac myxoma |
MYH8 encodes myosin heavy chain 8 (1,937 aa). Muscle contraction Highest expression in Muscle Skeletal (3.9 TPM) and Kidney Medulla (1.2 TPM).
Carney complex - trismus - pseudocamptodactyly syndrome is associated with mutations in the MYH8 gene on chromosome 17.
MYH8 is classified as a druggable target with score 0.0.
Genetic testing for MYH8 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Carney complex - trismus - pseudocamptodactyly syndrome