Hydrocephalus with Associated Malformations

Alternative Names

  • Game-Friedman-Paradice Syndrome
  • Growth Delay Hydrocephaly Lung Hypoplasia
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

236640

Mode of Inheritance

Autosomal recessive

Description

Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome.

Game-Friedman-Paradice syndrome is characterized by growth retardation, hydrocephalus with patent aqueduct of Sylvius, micrognathia, hypoplastic multilobed lungs, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias, foot deformities, and other defects.

Diagnosis can be made prenatally using ultrasound examination, via which hydrocephaly can be clearly observed as early as the fourteenth week of gestation.

Molecular Genetics

No information is available so far regarding the molecular causes of this disorder.

Epidemiology in the Arab World

View Map

Other Reports

Kuwait

Farag et al. (1993) screened 400 institutionalized mentally retarded (IQ less than 50) patients in Kuwait, of whom three patients were found to be suffering from hydrocephalus with associated malformations.

© CAGS 2024. All rights reserved.