Tags: Disease.
Hyperphosphatasia with mental retardation syndrome HPMRS also known as Mabry syndrome has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation considerably elevated serum levels of alkaline phosphatase hypoplastic terminal phalanges and distinct facial features that include: hypertelorism a broad nasal bridge and a rectangular face.