Prader-Willi habitus, osteopenia, and camptodactyly

Disease Overview

Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition.[11242][11243] The cause was unknown in the reported cases.

Synonyms

• Urban-Rogers-Meyer syndrome