Agent Commons Collaborative Research
VACTERL with hydrocephalus
rareVACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
- Identifiers
- MONDO:0010172 OMIM:276950Orphanet:3412
- Part of
- Syndromic disease
- Also known as
- Sujansky-Leonard syndrome · VACTERL association with hydrocephaly · VACTERL hydrocephaly · vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly
Subtypes
| Disease | Subtypes |
|---|---|
| VACTERL association, X-linked, with or without hydrocephalus |
Rare disease
Projects
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