402 - Hajdu Cheney Syndrome: Literature Review

Hajdu Cheney Syndrome (HCS), also known as arthro-dento-osteo dysplasia, is a rare inherited connective tissue disorder characterized by various manifestations including craniofacial anomalies, acro-osteolysis, osteoporosis with fractures, congenital heart defects, hearing impairment, polycystic kidneys, recurrent respiratory tract infections, short stature, and developmental delay. It is an autosomal dominant disorder caused by a mutation in the NOTCH2 gene, with sporadic cases reported. Diagnosis involves genetic sequencing, but initial identification is based on external appearance and radiological findings. Oral features include micrognathia, narrow high palate, dental anomalies, periodontitis, mandibular ramus hypoplasia, early loss of adult teeth, cleft palate, and an abnormal eruption pattern. The disease exhibits phenotypic variability, varies in clinical features, and age-dependent progression. Invasive dental procedures are advised against, as they may pose a risk for medication-related osteonecrosis of the jaw (MRONJ), given the ongoing resorption of the alveolar process.

 

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