Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal UPD(14). The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta. Patients with KOS also have a facial dysmorphism, such as: frontal bossing, excessive hair growth on forehead, depressed nasal bridge, micrognathia with/or retrognathia, full cheeks, webbed neck, protruding philtrum.
Medical condition
Symptoms.
The symptoms of this disease are:
Very frequent:
Frequent:
Occasional:
Very rare:
Cause.
There are three main mechanisms that can cause KOS:
The genes which mutation can cause KOS are located on 14q32.2 and these genes are: MEG3, RTL1, MEG8.
Diagnosis.
Diagnosis can be suspected by facial features and by coat-hanger angle, but it can be confirmed by genetic testing.
Treatment.
Unfortunately, this disease doesn’t have a cure, the management of that disease is symptomatic.
Prognosis.
This disease has a poor prognosis, because 30% of patients die shortly after birth or during early infancy. Although there are patients who are adults and one of the oldest patient is 35 (at the article publication time).
History.
KOS was first described by Wang "et al" in 1991. But the name was coined from Masayo Kagami and Tsutomu Ogata who described it in details.
Prevalence.
According to one study, the prevalence of that disease is less than a 1/1000000 and over 80 case had been reported.