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spondylocostal dysostosis-anal and genitourinary malformations syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylocostal dysostosis-anal and genitourinary malformations syndrome

MONDO:0010069

Also known as:Casamassima-Morton-Nance syndromeCMn syndromespondylocostal dysostosis with anal atresia and urogenital anomalies

Overview

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.

GeneticsAutosomal recessive

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Oligohydramnios, Anal atresia, Pulmonary hypoplasia, and Sideways curvature of the spine (scoliosis) and 19 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Sideways curvature of the spine (scoliosis), Vertebral fusion, Supernumerary vertebrae

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 spondylocostal dysostosis-anal and genitourinary malformations syndrome.

4 publications have been identified in PubMed for spondylocostal dysostosis-anal and genitourinary malformations syndrome. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Salinas-Torres VM (2025). [PMID: 39324207](https://pubmed.ncbi.nlm.nih.gov/39324207/). *Pediatr Dev Pathol*. [Case Report / Case Series]
Shi Z (2024). [PMID: 39776646](https://pubmed.ncbi.nlm.nih.gov/39776646/). *Front Pediatr*. [Case Report / Case Series]
Ruth J (2024). [PMID: 39389659](https://pubmed.ncbi.nlm.nih.gov/39389659/). *Semin Pediatr Neurol*. [Review / Meta-Analysis]
Lourembam R (2024). [PMID: 39086454](https://pubmed.ncbi.nlm.nih.gov/39086454/). *J Pediatr Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271520

Orphanet

European rare disease database

Orphanet:94095

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spondylocostal dysostosis-anal and genitourinary malformations syndrome

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

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