HAJDU-CHENEY Syndrome

Summarized by Plex Health
Last Updated: 02 May 2022
effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with hajdu-cheney syndrome. "effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with hajdu-cheney syndrome.", by Hwang S, Shin DY, Moon SH, Lee EJ, Lim SK, Kim OH, Rhee Y. F1: Clinical photographs of the face (A) and hands and feet (B). Micrognathia is evident. Distal clubbing of the fingers and toes are noted. Iliac bone biopsy shows decreased bone volume and thin and widely...

Hajdu-Cheney syndrome is uncommon disorder that can impact many parts of the body, specifically the bones. Bone irregularities throughout the body prevail in Hajdu-Cheney syndrome. Hajdu-Cheney syndrome also affects the form and toughness of the lengthy bones in the legs and arms. Hajdu-Cheney syndrome causes problems of the head bones, including the bones of the face. Some affected children are birthed with an opening in the roofing of the mouth called a cleft palate or with a high arched taste buds. One of the most severe problems of Hajdu-Cheney syndrome, which occur in about half of all affected people, are irregularities called platybasia and basilar invagination. Platybasia is a flattening of the base of the skull triggered by softening and thinning of the head bones. Basilar invagination occurs when the softened bones enable part of the back to stick out unusually with the opening at the base of the skull, pressing into the lower parts of the brain. The signs and symptoms of Hajdu-Cheney syndrome differ significantly among affected individuals, even amongst members of the same family. The risk of developing platybasia and basilar invagination additionally increases gradually. The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome. Based on these resemblances, many researchers now take into consideration Hajdu-Cheney syndrome and SFPKS to be variants of the same condition.

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