Renpenning syndrome
Definition
Renpenning syndrome is an inherited X-linked disorder that manifests itself in males. It is characterized by mental retardation, short stature, a smaller than normal head circumference (microcephaly), and small testes. The syndrome was first described by Hans Renpenning, in 1962, in a large Mennonite family living in Manitoba, Canada. The term "Renpenning syndrome" came to be used as a general designation for X-linked mental retardation. However, as the syndrome has been mapped to Xp11.2-p11.4, the term "Renpenning syndrome" should be limited to the condition that maps to this region and is characterized by severe mental retardation, microcephaly, short stature, and small testes. The prevalence is unknown.
Description
Renpenning syndrome is among the group of
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