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Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Features include: Delayed epiphyseal ossification, Tapered metacarpals, Upslanted palpebral fissure, and Long philtrum and 41 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 7 | Short foot, Tapered phalanx of finger, Disproportionate short-limb short stature |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spondyloepiphyseal dysplasia, Cantu type.
12 publications have been identified in PubMed for spondyloepiphyseal dysplasia, Cantu type. Research spans Case Report / Case Series (58%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 58% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:34 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
4 |
Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Cuboid-shaped vertebral bodies |
Head and neck | 4 | Coarse facial features, Round face, Thick lower lip vermilion |
Growth and development | 2 | Disproportionate short-limb short stature, Postnatal growth retardation |
Muscles | 1 | Flexion contracture |
Brain and nerves | 1 | Depressed nasal bridge |
Lungs and breathing | 1 | Restrictive ventilatory defect |
Research summaries
2 |
17% |
Disease patterns and progression | 2 | 17% |
Laboratory research | 1 | 8% |
Sharifinejad A (2025). [PMID: 41040831](https://pubmed.ncbi.nlm.nih.gov/41040831/). *Clin Case Rep*. [Case Report / Case Series]
Elshirbeny M (2025). [PMID: 41953243](https://pubmed.ncbi.nlm.nih.gov/41953243/). *Qatar Med J*. [Case Report / Case Series]
Lan S (2025). [PMID: 41811047](https://pubmed.ncbi.nlm.nih.gov/41811047/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Alavanda C (2025). [PMID: 39113392](https://pubmed.ncbi.nlm.nih.gov/39113392/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Maas MHJ (2025). [PMID: 40112831](https://pubmed.ncbi.nlm.nih.gov/40112831/). *Endoscopy*. [Epidemiology / Natural History]
Huang H (2025). [PMID: 40877583](https://pubmed.ncbi.nlm.nih.gov/40877583/). *Funct Integr Genomics*. [Review / Meta-Analysis]
Milovanova A (2025). [PMID: 40004207](https://pubmed.ncbi.nlm.nih.gov/40004207/). *Int J Mol Sci*. [Epidemiology / Natural History]
Liaqat K (2024). [PMID: 38135440](https://pubmed.ncbi.nlm.nih.gov/38135440/). *Am J Med Genet A*. [Case Report / Case Series]
Hanson A (2024). [PMID: 38984978](https://pubmed.ncbi.nlm.nih.gov/38984978/). *Function (Oxf)*. [Basic Science / Preclinical]
Yacoubian V (2024). [PMID: 38741921](https://pubmed.ncbi.nlm.nih.gov/38741921/). *Arthroplast Today*. [Review / Meta-Analysis]