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
Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
Features include always present findings: Broad phalanx, Broad femoral neck, Limited elbow extension, and Hypoplasia of the odontoid process and others; and sometimes findings: Prominent calcaneus and Pes planus. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Broad femoral neck, Excessive inward curvature of the lower spine (hyperlordosis), Flattened femoral head |
RAB33B function has not been fully characterized.
Smith-McCort dysplasia 2 is associated with mutations in the RAB33B gene on chromosome 4.
Genetic testing for RAB33B is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 19 always present features.
No clinical trials have been registered for Smith-McCort dysplasia 2.
3 publications have been identified in PubMed for Smith-McCort dysplasia 2. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).
Parisi SR (2026). [PMID: 41506134](https://pubmed.ncbi.nlm.nih.gov/41506134/). *Eur J Cell Biol*. [Basic Science / Preclinical]
Jacob P (2025). [PMID: 39706863](https://pubmed.ncbi.nlm.nih.gov/39706863/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Akalın A (2024). [PMID: 38860472](https://pubmed.ncbi.nlm.nih.gov/38860472/). *Am J Med Genet A*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Smith-McCort dysplasia 2
Growth and development |
2 |
Short stature, Disproportionate short-trunk short stature |
Head and neck | 2 | Coarse facial features, Mandibular prognathia |
Brain and nerves | 1 | Intellectual disability |
Arms and legs | 1 | Short phalanx of finger |