Renpenning's syndrome is a neurodevelopmental disorder recognised in males intellectual disability

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, mild growth retardation with examples in the testes and head

Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...

, and a somewhat short stature. The condition only affects males, starting at birth, and was first described by Hans Renpenning in 1963 after he documented these traits on many children in one family alone.

It was characterized in 1962.

It can be associated with PQBP1

PQBP1

Polyglutamine-binding protein 1 is a protein that in humans is encoded by the PQBP1 gene.It can be associated with Renpenning's syndrome.-Interactions:PQBP1 has been shown to interact with WBP11, POU3F2, POLR2A and TXNL4A.-Further reading:...

.

Characteristics

People with Renpenning's typically begin learning language at an ordinary pace, but by the age of 3–4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head (microcephaly

Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...

). Small testes and short stature are also known to commonly occur.