Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Goldberg-Shprintzen syndrome

Goldberg-Shprintzen megacolon syndrome is an autosomal recessive disorder caused by mutations of the KIF1BP gene. Clinical feature include intellectual disability, microcephaly, and facial dysmorphy. Dysmorphisms of internal organs include megacolon and urogenital anomalies.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Brooks AS et. al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.


Drévillon L et. al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.


Valence S et. al. (2013) Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.


Yomo A et. al. (1991) Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.


Halal F et. al. (1990) The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.


Hurst JA et. al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.


Goldberg RB et. al. (1981) Hirschsprung megacolon and cleft palate in two sibs.


Brooks AS et. al. (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).


Silengo M et. al. (2003) Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome.


Murphy HR et. al. (2006) Two brothers with Goldberg-Shprintzen syndrome.

Update: Sept. 26, 2018