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Goldberg Shprinzten syndrome
Background
GOSHS; HSCR cleft palate-mental retardation; Goldberg-Shprinzten megacolon syndrome. OMIM 609460 (not to be confused with Shprintzen Goldberg craniosynostosis syndrome or Shprintzen syndrome – velocardiofacial syndrome. These are different disorders)
Goldberg Shprinzten syndrome (GOSHS) was first described by R Goldberg and R Shprinzten in 1981. Individuals with this condition have learning difficulties and typical facial features. Hirschsprungs disease with or without cleft palate usually alerts the clinician to the diagnosis, but is not an essential feature. Individuals with GOSHS are usually small in height and head size for their age.
GOSHS affects males and females equally. It is a rare condition and has been reported in only a handful of cases worldwide. It is probably under-diagnosed though, as some cases in the past may have been confused with another condition called Mowatt-Wilson syndrome. The two conditions are genetically separate and are inherited in different ways.
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