adult hypophosphatasia

a·dult hy·po·phos·pha·ta·si·a

[MIM*146300]
an autosomal dominant skeletal disorder with early loss of teeth, bowing of limbs diagnosed as rickets, and beaten-copper appearance on skull radiographs. It is caused by mutation in the gene ALPL encoding tissue-nonspecific alkaline phosphatase on 1p.
Full browser ?