Renpenning's syndrome

Renpenning's syndrome
Classification and external resources
OMIM 309500

Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples in the testes and head, and a somewhat short stature. The condition only affects males, starting at birth, and was first characterized in 1962.[1] but first described by Hans Renpenning in 1963 after he documented these traits on many children in one family alone.

It can be associated with PQBP1.[2]

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

See also

References

  1. ↑ RENPENNING H, GERRARD JW, ZALESKI WA, TABATA T (November 1962). "Familial sex-linked mental retardation". Can Med Assoc J. 87: 954–6. PMC 1849750Freely accessible. PMID 13981686.
  2. ↑ Martínez-Garay I, Tomás M, Oltra S, et al. (January 2007). "A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation". Eur. J. Hum. Genet. 15 (1): 29–34. doi:10.1038/sj.ejhg.5201717. PMID 17033686.
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