Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Orpha code: 1538OMIM code: 123155

Definition

A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.

Disease data
Classification

Malformation syndrome

Synonyms
Braddock-Jones-Superneau syndrome
Zespół Braddocka, Jonesa i Superneau
ORPHA code
1538
OMIM code
123155
ICD10 code
Q03.1
ICD11 code
LD2F.1Y

No additional description.

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