Caudal regression-sirenomelia spectrum

Orpha code: 444941OMIM code:

Definition

A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.

Disease data
Classification

Clinical group

ORPHA code
444941
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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