VACTERL ASSOCIATION WITH HYDROCEPHALUS

General Information (adopted from Orphanet):

Synonyms, Signs: VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED
VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 276950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000089) Renal hypoplasia 78 / 7739
2
(HPO:0009777) Absent thumb 31 / 7739
3
(HPO:0003468) Abnormality of the vertebrae 77 / 7739
4
(HPO:0002023) Anal atresia 135 / 7739
5
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
6
(HPO:0002093) Respiratory insufficiency 410 / 7739
7
(HPO:0002410) Aqueductal stenosis 19 / 7739
8
(OMIM) No anal atresia 1 / 7739
9
(OMIM) T-E fistula 1 / 7739
10
(OMIM) Radial dysplasia 1 / 7739
11
(HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with ...
Clinical Description OMIM Sujansky and Leonard (1983) described 3 sibs with VACTERL-H. The index case had hydrocephalus, tracheoesophageal fistula, congenital heart disease, renal hypoplasia, and bilateral agenesis of radii and thumbs. She died at 4.5 months of age. The other 2 ...
Molecular genetics OMIM Reardon et al. (2001) reported a his61-to-asp (H61D) mutation in the PTEN gene (601728.0030) in a child with features of VATER association, including macrocephaly, ventriculomegaly, tracheoesophageal fistula, and bilateral radial hand anomalies. Reardon et al. (2001) acknowledged that ...