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Growth delay-hydrocephaly-lung hypoplasia syndrome

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Growth delay-hydrocephaly-lung hypoplasia syndrome
Other namesGame-Friedman-Paradice syndrome
SpecialtyMedical genetics
Symptomsgrowth delays and brain-lung abnormalities
ComplicationsIncompatibility with life
Usual onsetneo-natal
Duration-
CausesAutosomal recessive inheritance
Preventionnone
PrognosisBad
Frequencyvery rare, only 4 cases have been described in medical literature

Growth delay-hydrocephaly-lung hypoplasia syndrome, also known as Game-Friedman-Paradice syndrome is a very rare hereditary disorder which is characterized by developmental, lung, and brain anomalies.[1] Only 4 cases have been reported in medical literature.[2]

Signs and symptoms

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The following is a list of the symptoms usually shown by fetuses with the disorder:[3]

  • Delayed fetal growth
  • Hydrocephaly
  • Sylvius patent aqueduct
  • Micrognathia
  • Poorly developed (hypoplastic) lungs
  • Malrotated intestines
  • Omphalocele
  • Shortening of the lower limbs
  • Tibia bowing
  • Generalized foot abnormalities

History

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It was first discovered in 1989, by Game et al. when they described 4 fetus siblings (3 females, 1 male) born to healthy, non-consanguineous parents with all the symptoms mentioned above. The siblings were terminated and all of them (post-mortem examination) had a size similar to fetuses of younger gestational age.[4][5]

References

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  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Growth delay hydrocephaly lung hypoplasia syndrome". www.orpha.net. Retrieved 2022-06-08.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "OMIM Entry - 236640 - HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS". omim.org. Retrieved 2022-06-08.
  3. ^ "Growth delay-hydrocephaly-lung hypoplasia syndrome (Concept Id: C1856052) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-08.
  4. ^ Game, K.; Friedman, J. M.; Paradice, B.; Norman, M. G. (1989-06-01). "Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs". American Journal of Medical Genetics. 33 (2): 276–279. doi:10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.
  5. ^ Game, K.; Friedman, J. M.; Paradice, B.; Norman, M. G. (1989-06-01). "Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs". American Journal of Medical Genetics. 33 (2): 276–279. doi:10.1002/ajmg.1320330226. ISSN 0148-7299. PMID 2764038.