DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: ADDWOC
Number of Symptoms 9
OrphanetNr:
OMIM Id: 609222
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004488) Macrocephaly at birth 2 / 7739
2
(HPO:0004470) Atretic occipital cephalocele 2 / 7739
3
(HPO:0001305) Dandy-Walker malformation 79 / 7739
4
(OMIM) Bony defect with cephalocele 1 / 7739
5
(HPO:0003829) Incomplete penetrance 85 / 7739
6
(OMIM) Normal neurologic development in most cases 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) MRI shows atretic occipital cephalocele with bony skull defect 1 / 7739
9
(OMIM) Subscalp nodule (approximately 1.5 to 4 cm) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Martinez-Lage et al. (1996) reported 3 sibs with occipital atretic cephaloceles, skin-covered subscalp lesions containing meninges or remnants of glial or neural tissues. Neuroimaging studies showed a spectrum of posterior fossa cystic malformations.

Bassuk et al. ...

Molecular genetics OMIM - Associations Pending Confirmation

In the large 3-generation Vietnamese family with ADDWOC originally reported by Bassuk et al. (2004), Darbro et al. (2013) performed whole-exome capture and sequencing and identified a single heterozygous variant, a nonsense ...