Carney complex - trismus - pseudocamptodactyly syndrome
Findings
No curated finding names Carney complex - trismus - pseudocamptodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0012137), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiac myxomaHPOHP:0011672
- Distal arthrogryposisHPOHP:0005684
- TrismusHPOHP:0000211
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH8HGNC:7578
- Refuted Evidence · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Carney complex - trismus - pseudocamptodactyly syndrome
- Also called
- Carney complex variant