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Dandy-walker malformation with occipital cephalocele, autosomal dominant(ADDWOC)

MedGen UID:
393273
Concept ID:
C2674987
Disease or Syndrome
Synonym: ADDWOC
 
Monarch Initiative: MONDO:0012218
OMIM®: 609222

Clinical features

From HPO
Macrocephaly at birth
MedGen UID:
322956
Concept ID:
C1836599
Finding
The presence of an abnormally large skull with onset at birth.
Atretic occipital cephalocele
MedGen UID:
332248
Concept ID:
C1836600
Finding
A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.
Dandy-Walker malformation
MedGen UID:
419183
Concept ID:
C2931867
Congenital Abnormality
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.

Recent clinical studies

Diagnosis

McNiven V, Ito YA, Hartley T, Kernohan K, Miller E; Care4Rare Canada, Armour CM
Am J Med Genet A 2019 May;179(5):837-841. Epub 2019 Feb 17 doi: 10.1002/ajmg.a.61095. PMID: 30773799

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