growth delay-hydrocephaly-lung hypoplasia syndrome
Findings
No curated finding names growth delay-hydrocephaly-lung hypoplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009362), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Aqueductal stenosisHPOHP:0002410
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Intestinal malrotationHPOHP:0002566
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Lower limb undergrowthHPOHP:0009816
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Abnormally ossified vertebraeHPOHP:0100569
- Occasional (5% to 29% of cases)
- Cerebral calcificationHPOHP:0002514
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
- Tibial bowingHPOHP:0002982
- Occasional (5% to 29% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: growth delay-hydrocephaly-lung hypoplasia syndrome
- Also called
- game-Friedman-Paradice syndrome