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Goldberg-Shprintzen syndrome

MIM 609460

Saturday 25 June 2005

Definition: Goldberg-Shprintzen syndrome associates microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria.

The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.

GSS is a rare condition within the group of patients with MR and HSCR. Several reports with variable association of microcephaly, iris coloboma, cleft palate and mental retardation, and regarded as possible variants GSS, are unlikely allelic conditions.


- microcephaly
- mental retardation
- Hirschsprung disease
- bilateral generalized polymicogyria


The disease causing gene KIAA1279 has been identified in a large consanguineous family and encodes a protein of unknown function.

- germline mutations of KIAA1279 in Goldberg-Shprintzen syndrome (GOSHS)

  • KIAA1279 at 10q22.1 encodes a protein with two tetratrico peptide repeats.