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Growth delay-hydrocephaly-lung hypoplasia syndrome

Disease 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.

ORPHA:3035

Classification level: Disorder
  • Synonym(s):
    • Game-Friedman-Paradice syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q87.8
  • OMIM: 236640
  • UMLS: C1856052
  • MeSH: -
  • GARD: 2427
  • MedDRA: -
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