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growth delay-hydrocephaly-lung hypoplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

growth delay-hydrocephaly-lung hypoplasia syndrome

MONDO:0009362

Also known as:game-Friedman-Paradice syndromehydrocephalus with associated malformationsretarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities

Overview

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.

Diagnosis

Biomarker and diagnostic research for growth delay-hydrocephaly-lung hypoplasia syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for growth delay-hydrocephaly-lung hypoplasia syndrome.

303 publications have been identified in PubMed for growth delay-hydrocephaly-lung hypoplasia syndrome. Kisho has analyzed 77 by research type. Research spans Review / Meta-Analysis (27%), Basic Science / Preclinical (27%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Research summaries	21	27%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236640

Orphanet

European rare disease database

Orphanet:3035

GARD

Genetic and Rare Diseases Info Center

GARD:2427

Questions for Your Care Team

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growth delay-hydrocephaly-lung hypoplasia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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