congenital nervous system disorder cherubism autosomal dominant optic atrophy Al Gazali Khidr Prem Chandran syndrome https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome MEDGEN:419678 UMLS:C2930951 cherubism, optic atrophy and short stature 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. GARD:0000586 MESH:C535616 MONDO:0021838