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| Renpenning's syndrome | ||
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Renpenning's syndrome is a genetic neurodevelopmental disorder. Traits include intellectual disability, mild growth impairment in the testes and head, and a somewhat short stature. The condition is genetic 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.[1]
It can be associated with PQBP1.[2] It is on the X chromosome and traits only occur in people with one X chromosome (biological males).
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[]
- Lujan-Fryns syndrome
- Fragile x syndrome
- Hypotonia
- Intellectual disability
References[]
- ↑ RENPENNING H, GERRARD JW, ZALESKI WA, TABATA T (November 1962). Familial sex-linked mental retardation. Can Med Assoc J 87: 954–6. PMID: 13981686.
- ↑ 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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