spondylocostal dysostosis-anal and genitourinary malformations syndrome
MONDO:0010069Mondo
Findings
No curated finding names spondylocostal dysostosis-anal and genitourinary malformations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010069), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: spondylocostal dysostosis-anal and genitourinary malformations syndrome
- Also called
- Casamassima-Morton-Nance syndrome