Al Gazali Khidr Prem Chandran syndrome

Al Gazali Khidr Prem Chandran syndrome is a rare disorder characterized by three main features: cherubism, optic atrophy leading to visual impairment, and short stature. Cherubism involves abnormal bone tissue in the lower part of the face, where both the lower and upper jaws become enlarged due to the replacement of normal bone with painless, cyst-like growths. This condition has been described in only one patient or family, making it an n-of-1 case. The rarity of the disorder means that much of its full clinical spectrum and natural history are not yet well understood.

People with this condition may show signs including abnormal bone growth in the jaws (cherubism), which can affect the appearance of the face, visual impairment due to optic atrophy, and short stature. These symptoms are all highlighted as part of the syndrome’s presentation.

Information about causes, genetics, and risk factors is currently limited for this condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about the prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.