Al Gazali Khidr Prem Chandran syndrome

MONDO:0021838

A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.

Also known as: cherubism, optic atrophy and short stature

140 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by