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Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.
Features include always present findings: Barrel-shaped chest, Limitation of joint mobility, Short stature, and Waddling gait and others. 29 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 7 | Limitation of joint mobility, Delayed femoral head ossification, Multicentric femoral head ossification |
DYM encodes dymeclin (669 aa). Necessary for correct organization of Golgi apparatus. Involved in bone development Highest expression in Ovary (30.6 TPM) and Artery Tibial (29.4 TPM).
Smith-McCort dysplasia 1 is associated with mutations in the DYM gene on chromosome 18.
DYM is classified as a druggable target with score 0.0.
Genetic testing for DYM is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 13 always present features.
No clinical trials have been registered for Smith-McCort dysplasia 1.
4 publications have been identified in PubMed for Smith-McCort dysplasia 1. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Parisi SR (2026). [PMID: 41506134](https://pubmed.ncbi.nlm.nih.gov/41506134/). *European journal of cell biology*. [Basic Science / Preclinical]
Jacob P (2025). [PMID: 39706863](https://pubmed.ncbi.nlm.nih.gov/39706863/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]
Akalın A (2024). [PMID: 38860472](https://pubmed.ncbi.nlm.nih.gov/38860472/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]
Chavan S (2024). [PMID: 39416591](https://pubmed.ncbi.nlm.nih.gov/39416591/). *Cureus*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Smith-McCort dysplasia 1
Growth and development
2 |
Short stature, Disproportionate short-trunk short stature |
Brain and nerves | 2 | Waddling gait, Intellectual disability |
Head and neck | 2 | Microcephaly, Hypoplastic facial bones |
Muscles | 1 | Limitation of joint mobility |
Arms and legs | 1 | Short phalanx of finger |