Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0001305 Dandy-Walker malformation Very frequent (99-80%)
HP:0001321 Cerebellar hypoplasia Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0005472 Orbital craniosynostosis Very frequent (99-80%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID