Acroosteolysis dominant type
Acroosteolysis dominant type
Definition
A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.
Also known as acrodentoosteodysplasia, acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Cheney syndrome, Hajdu Cheney Syndrome, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome-NOTCH2, serpentine fibula polycystic kidney syndrome, serpentine fibula-polycystic kidney syndrome, serpentine fibula-polycystic kidneys syndrome — per MONDO