Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant Robinow syndrome 1

Robinow syndrome 1 is an autosomal dominant disorder caused by mutations of the WNT5A gene. The disease is characterized by multiple malformations. Kidneys typically show hydronephrosis.

Systematic

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
WNT5A
Autosomal recessive Robinow syndrome
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
CHD1L
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

References:

1.

Robinow M et. al. (1969) A newly recognized dwarfing syndrome.

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2.

Oishi I et. al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

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3.

Person AD et. al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome.

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4.

Roifman M et. al. (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

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5.

Kelly TE et. al. (1975) The Robinow syndrome: an isolated case with a detailed study of the phenotype.

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6.

Baxová A et. al. (1989) [2 cases of Robinow's syndrome with mental retardation].

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7.

Israel H et. al. (1988) Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome.

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8.

Butler MG et. al. (1987) Robinow syndrome: report of two patients and review of literature.

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9.

Bain MD et. al. (1986) Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

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10.

None (1985) Umbilical dysmorphology. The importance of contemplating the belly button.

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11.

None (1973) Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae.

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12.

None (1973) A syndrome's progress.

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13.

Wadlington WB et. al. (1973) Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).

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14.

Schinzel A et. al. (1974) Fetal face syndrome with acral dysostosis.

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15.

Lee PA et. al. (1982) Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.

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16.

Petit P et. al. (1980) The Robinow syndrome.

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17.

Shprintzen RJ et. al. (1982) Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

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18.

Vallée L et. al. () [Robinow's syndrome with dominant transmission].

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19.

Türken A et. al. (1996) A large inguinal hernia with undescended testes and micropenis in Robinow syndrome.

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20.

Kantaputra PN et. al. (1999) Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

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21.

Patton MA et. al. (2002) Robinow syndrome.

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22.

Mazzeu JF et. al. (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

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23.

Beiraghi S et. al. (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms.

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Update: Sept. 26, 2018