Growth delay-hydrocephaly-lung hypoplasia syndrome

Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 23386950
 A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'.
Jana TK, Roy H, Giri S.
Oman Med J. 2013;28(1):63-6.
Hydrocephalus
        

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001539 Omphalocele Very frequent (99-80%)
HP:0002089 Pulmonary hypoplasia Very frequent (99-80%)
HP:0002410 Aqueductal stenosis Very frequent (99-80%)
HP:0002566 Intestinal malrotation Very frequent (99-80%)
HP:0002814 Abnormality of the lower limb Very frequent (99-80%)
HP:0002986 Radial bowing Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0009816 Lower limb undergrowth Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0002982 Tibial bowing Occasional (29-5%)
HP:0002991 Abnormality of fibula morphology Occasional (29-5%)
HP:0100569 Abnormally ossified vertebrae Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000238 Hydrocephalus 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID