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spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

MONDO:0011261

Also known as:spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardationspondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome

Overview

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.

ResearchLimited published research (1 article)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability.

1 publication has been identified in PubMed for spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability. Research spans Review / Meta-Analysis (100%).

Recent Publications

Yacoubian V (2024). [PMID: 38741921](https://pubmed.ncbi.nlm.nih.gov/38741921/). *Arthroplast Today*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602611

Orphanet

European rare disease database

Orphanet:163649

GARD

Genetic and Rare Diseases Info Center

GARD:16993

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team