Le syndrome d’Hajdu-Cheney ou acro-ostéolyse autosomique dominante

Abstract

Hajdu-Cheney syndrome (SHC), or autosomal dominant acro-osteolysis, is a very rare cranioskeletal dysplasia, characterized primarily by a small size, distal phalanx acro-osteolysis revealed by a pseudo-clubbing, generalized osteoporosis, characteristic craniofacial dysmorphia and periodontal disease. The clinical picture can be very heterogeneous and many other organ disorders have been described, including cardiovascular, kidney or endocrine disorders. The exact pathophysiology is still poorly understood but several teams have validated the role of a mutation within the NOTCH2 gene, resulting in the activation and accumulation of the NOTCH2 protein. This accumulation of NOTCH2 leads abnormalities of skeletal development, hepatic or still cardiovascular. To date, no curative treatment exists, but because of significant bone remodeling, several teams have tested bisphophonates and have shown their effectiveness on pain and osteoporosis in particular. The vital prognosis of the patients is generally good, but varies according to the organs affected, in particular cardiovascular complaints.