a hereditary condition transmitted as an autosomal recessive trait, marked by abnormally high alkaline phosphatase levels in the serum and by macrocranium, short neck and thorax, lateral bowing of the femurs, and anterior bowing of the tibias.
hy·per·phos·pha·ta·si·a(hī'pĕr-fos'fă-tā'zē-ă), [MIM*239000 and MIM*239300]
A skeletal dysplasia characterized by dwarfism, macrocranium, expansion of the diaphyses of tubular bones with multiple fractures, patchy osteosclerosis, leg bowing, and occasionally mental retardation; serum alkaline phosphatase level is elevated; autosomal recessive inheritance.
hyperphosphatasia/hy·per·phos·pha·ta·sia/ (-fos″fah-ta´zhah) hyperphosphatasemia.
hyperphosphatasiaHyperostosis corticalis deformans juvenilis, juvenile Paget's disease An AR condition characterized by enlarged and defective bones, ↑ bone density and Fx Clinical Dwarfism, macrocephaly, blue sclerae Lab ↑ Alk phos, normal Ca2+, PO4
hy·per·phos·pha·ta·si·a(hī'pĕr-fos'fă-tā'zē-ă) [MIM*239000 and 239300]
A skeletal dysplasia characterized by dwarfism, macrocranium, expansion of the diaphyses of tubular bones with multiple fractures, and other findings.