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contractures, pterygia, and variable skeletal fusions syndrome 1B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

contractures, pterygia, and variable skeletal fusions syndrome 1B

MONDO:0020746

Also known as:contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Overview

GeneticsAutosomal recessive · MYH3 (chr 17)

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: Fused thoracic vertebrae, Sideways curvature of the spine (scoliosis), and Flexion contracture; and common findings: Absent phalangeal crease, Short neck, Fused cervical vertebrae, and Tarsal synostosis and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Fused thoracic vertebrae, Sideways curvature of the spine (scoliosis), Fused cervical vertebrae

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.

MYH3 encodes myosin heavy chain 3 (1,940 aa). Muscle contraction Highest expression in Testis (17.2 TPM) and Prostate (9.7 TPM).

Contractures, pterygia, and variable skeletal fusions syndrome 1B is associated with mutations in the MYH3 gene on chromosome 17.

MYH3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYH3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618469

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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contractures, pterygia, and variable skeletal fusions syndrome 1B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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