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Features include always present findings: Epicanthus, Tented upper lip vermilion, Limited elbow extension, and Carpal bone hypoplasia and others; and very common findings: Thick vermilion border, Overlapping toe, Craniosynostosis, and Proptosis and others. 80 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 18 | Femoral bowing, Carpal bone hypoplasia, Narrow pelvis bone |
Brain and nerves | 7 | Intellectual disability, Delayed speech and language development, Depressed nasal bridge |
Arms and legs | 5 | Overlapping toe, Rocker bottom foot, Clinodactyly of the 5th finger |
Head and neck | 3 | Tented upper lip vermilion, Microcephaly, Craniosynostosis |
Eyes | 2 | Strabismus, Ptosis |
Growth and development | 2 | Short stature, Disproportionate short-trunk short stature |
Muscles | 1 | Generalized hypotonia |
Ears | 1 | Abnormality of the ear |
Heart and blood vessels | 1 | Mitral regurgitation |
RSPRY1 function has not been fully characterized.
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome is associated with mutations in the RSPRY1 gene on chromosome 16.
Genetic testing for RSPRY1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 20 always present features, 12 very common features, 22 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome.
1 publication has been identified in PubMed for progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome. Research spans Case Report / Case Series (100%).
Singh S (2024). [PMID: 38562122](https://pubmed.ncbi.nlm.nih.gov/38562122/). *Am J Med Genet A*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:36 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center