Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital nervous system disorder · Autosomal dominant optic atrophy · Cherubism
Al Gazali Khidr Prem Chandran syndrome
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.
This condition has no sub-types.