Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCerebellar Diseases (D002526)
Parent Node:
expandHydrocephalus (D006849)
Parent Node:
expandNervous System Malformations (D009421)
..Starting node
..expandDandy-Walker Syndrome (D003616)

       Child Nodes:
........expand3C syndrome (C535313)
........expandChitayat Moore Del Bigio syndrome (C535927)
........expandCraniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
........expandDandy Walker cyst (C538507)
........expandDandy Walker malformation postaxial polydactyly (C535771)
........expandDandy Walker variant (C535772)
........expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
........expandDandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant (C567185)
........expandMental retardation, X-linked, syndromic 5 (C535773)
........expandNasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
........expandRenal hepatic pancreatic dysplasia Dandy Walker cyst (C537756)
........expandRENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
........expandVolcke Soekarman syndrome (C537718)



 Sister Nodes: 
..expandAgenesis of Corpus Callosum (D061085) Child59
..expandAicardi-Goutieres syndrome (C535607) Child1
..expandAicardi-Goutieres Syndrome 3 (C563683)
..expandAicardi-Goutieres Syndrome 4 (C563681)
..expandAicardi-Goutieres syndrome 5 (C535608)
..expandAthabaskan brainstem dysgenesis (C535397)
..expandCentral Nervous System Cysts (D020863) Child11
..expandCentral Nervous System Vascular Malformations (D020785) Child10
..expandCerebellar Hypoplasia (C562568)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandDandy-Walker Syndrome (D003616) Child13
..expandDrachtman Weinblatt Sitarz syndrome (C535603)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandHydranencephaly (D006832) Child3
..expandMalformations of Cortical Development (D054220) Child226
..expandMedian-Ulnar Nerve Communications (C563598)
..expandMicrophthalmia, Syndromic 3 (C565948)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandNeural Tube Defects (D009436) Child55
..expandSchisis association (C536633)
..expandSepto-Optic Dysplasia (D025962) Child6
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2968
Name:Dandy-Walker Syndrome
Definition:A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)
Alternative IDs:OMIM:220200
ParentIDs:MESH:D002526|MESH:D006849|MESH:D009421
TreeNumbers:C10.228.140.252.300 |C10.228.140.602.288 |C10.228.140.631.450.500 |C10.500.205 |C16.131.666.205
Synonyms:Dandy-Walker Complex |Dandy-Walker Cyst |Dandy-Walker Deformity |Dandy Walker Malformation |Dandy-Walker Malformation |DANDY-WALKER MALFORMATION, INCLUDED |Dandy Walker Syndrome |Dandy Walker Syndrome, Familial |Dandy-Walker Syndrome, Familial |DWM, INCLUDED |DWS |
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D003616
MeSH: D003616
OMIM: 220200;

Genes: DWS;
Phenotypes
1 HP:0002335Agenesis of cerebellar vermis
2 HP:0006824Cranial nerve paralysis
3 HP:0002198Dilated fourth ventricle
4 HP:0000930Elevated imprint of the transverse sinuses
5 HP:0001425Heterogeneous
6 HP:0000238Hydrocephalus
7 HP:0000639Nystagmus
8 HP:0002951Partial absence of cerebellar vermis
9 HP:0000933Posterior fossa cyst at the fourth ventricle
10 HP:0003745Sporadic
11 HP:0000931Thinning and bulging of the posterior fossa bones
12 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants