Growth delay-hydrocephaly-lung hypoplasia syndrome

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. Only 4 cases have been reported in medical literature.

Growth delay-hydrocephaly-lung hypoplasia syndrome
Other names	Game-Friedman-Paradice syndrome
Specialty	Medical genetics
Symptoms	growth delays and brain-lung abnormalities
Complications	Incompatibility with life
Usual onset	neo-natal
Duration	-
Causes	Autosomal recessive inheritance
Prevention	none
Prognosis	Bad
Frequency	very rare, only 4 cases have been described in medical literature

Signs and symptoms

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

• 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

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.