VACTERL with hydrocephalus

Orpha code: 3412OMIM code: 314390

Definition

VACTERL 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.

Disease data
Classification

Malformation syndrome

Synonyms
Sujansky-Leonard syndrome
Zespół Sujansky'ego i Leonarda
ORPHA code
3412
OMIM code
314390
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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