trismus-pseudocamptodactyly syndrome
MONDO:0008016Mondo
Findings
No curated finding names trismus-pseudocamptodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- TrismusHPOHP:0000211
- 2 of 2 reported patients
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Finger symphalangismHPOHP:0009700
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- Occasional (5% to 29% of cases)
- Mandibular prognathiaHPOHP:0000303
- Occasional (5% to 29% of cases)
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: trismus-pseudocamptodactyly syndrome
- Also called
- distal arthrogryposis type 7Dutch-Kentucky syndromeHecht syndromeHecht-Beals syndrome