Hydrocephalus with associated malformations

Preferred Label : Hydrocephalus with associated malformations;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Among the offspring of unrelated healthy parents, Game et al. (1989) observed 4 fetuses with 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. Occurrence in 4 sibs (3 female), including 1 pair of monochorionic diamniotic twins, suggested autosomal recessive inheritance. The diagnosis was made prenatally in all 4 cases, hydrocephalus being the most striking abnormality on ultrasound examination and present as early as the fourteenth week of gestation. *FIELD* RF 1. Game, K.; Friedman, J. M.; Paradice, B.; Norman, M. G.: Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs. Am. J. Med. Genet. 33: 276-279, 1989. *FIELD* CS Growth: Prenatal growth retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 236640;

Details

Origin ID

236640;

UMLS CUI

C1856052;

Currated CISMeF NLP mapping
- Game Friedman Paradice syndrome [MeSH concept]
- Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) [SNOMED CT concept]
- Growth delay-hydrocephaly-lung hypoplasia syndrome [ORDO Disease]
- game friedman paradice syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Genu varus [HPO term]
- Hydrocephalus [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Lower limb undergrowth [HPO term]
- Micrognathia [HPO term]
- Omphalocele [HPO term]
- Prenatal growth deficiency [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short lower limbs [HPO term]
- Tibial bowing [HPO term]
ORDO concept(s)
- Growth delay-hydrocephaly-lung hypoplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Game Friedman Paradice syndrome [MeSH concept]
- Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) [SNOMED CT concept]
- Growth delay-hydrocephaly-lung hypoplasia syndrome [ORDO Disease]
- game friedman paradice syndrome [MeSH Supplementary Concept]

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