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trismus-pseudocamptodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trismus-pseudocamptodactyly syndrome

MONDO:0008016

Also known as:Dutch-Kentucky syndromeHecht syndromeHecht-Beals syndrome

Overview

GeneticsAutosomal dominant · MYH8 (chr 17)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Trismus; and very common findings: Short stature, Limitation of joint mobility, Abnormality of the musculature, and Symphalangism affecting the phalanges of the hand. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Distal arthrogryposis, Joint stiffness present at birth (arthrogryposis multiplex congenita), Limitation of joint mobility

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

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.

Diagnosis

Genetic testing for MYH8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for trismus-pseudocamptodactyly syndrome.

6 publications have been identified in PubMed for trismus-pseudocamptodactyly syndrome. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Kayaalp B (2026). [PMID: 41708638](https://pubmed.ncbi.nlm.nih.gov/41708638/). *NPJ Genom Med*. [Epidemiology / Natural History]
Wrona A (2025). [PMID: 41170351](https://pubmed.ncbi.nlm.nih.gov/41170351/). *J Med Cases*. [Case Report / Case Series]
Soto ME (2025). [PMID: 40436996](https://pubmed.ncbi.nlm.nih.gov/40436996/). *Sci Rep*. [Basic Science / Preclinical]
Adhiyaman A (2024). [PMID: 40432674](https://pubmed.ncbi.nlm.nih.gov/40432674/). *J Pediatr Soc North Am*. [Review / Meta-Analysis]
Oliveira MDCS (2024). [PMID: 38911876](https://pubmed.ncbi.nlm.nih.gov/38911876/). *Rev Bras Ortop (Sao Paulo)*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158300

Orphanet

European rare disease database

Orphanet:3377

GARD

Genetic and Rare Diseases Info Center

GARD:2621

Questions for Your Care Team

→Should I pursue genetic testing for MYH8, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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trismus-pseudocamptodactyly syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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