Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Short neck and Camptodactyly; and very common findings: Short stature and Webbed neck. 33 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 5 | Hip contracture, Knee flexion contracture, Joint stiffness present at birth (arthrogryposis multiplex congenita) |
Head and neck | 3 | Cleft palate, Craniosynostosis, Microcephaly |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Vertebral fusion |
Ears | 1 | Hearing loss (hearing impairment) |
Growth and development | 1 | Short stature |
Heart and blood vessels | 1 | Ventricular septal defect |
Arms and legs | 1 | Cutaneous finger syndactyly |
Eyes | 1 | Ptosis |
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 spondylocarpotarsal fusion syndrome 1A is associated with mutations in the MYH3 gene on chromosome 17.
MYH3 is classified as a druggable target with score 0.0.
Genetic testing for MYH3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 very common features, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.
1 publication has been identified in PubMed for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A. Research spans Case Report / Case Series (100%).
Zhu X (2025). [PMID: 40797438](https://pubmed.ncbi.nlm.nih.gov/40797438/). *Medicine*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center