| 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 |
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.
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.