Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive Robinow syndrome

Autosomal recessive Robinow syndrome is a congenital skeletal disorder caused by mutations of the ROR2 gene. Characteristic features include dwarfism, costovertebral segmentation defects, and malformations of the skull, external genetalia, and kidneys.

Systematic

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
ROR2
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
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.

Schwabe GC et al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

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2.

Afzal AR et al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

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3.

van Bokhoven H et al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

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4.

Schwabe GC et al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

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5.

Tufan F et al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

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6.

Brunetti-Pierri N et al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

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7.

Schwarzer W et al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

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8.

Nazer H et al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

None (1979) Covesdem syndrome.

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15.

Wadia RS et al. (1978) Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

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16.

Schorderet DF et al. (1992) Robinow syndrome in two siblings from consanguineous parents.

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17.

None (1990) Autosomal recessive Robinow syndrome.

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18.

Glaser D et al. (1989) Robinow syndrome with parental consanguinity.

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19.

Saal HM et al. (1988) Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

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20.

None (1987) Comment on COVESDEM syndrome.

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21.

Aymé S et al. (1986) Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

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22.

Balci S et al. (1993) Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

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23.

Sabry MA et al. (1997) Unusual traits associated with Robinow syndrome.

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24.

Akşit S et al. (1997) Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports.

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25.

Balci S et al. (1998) Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger.

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26.

Soliman AT et al. (1998) Recessive Robinow syndrome: with emphasis on endocrine functions.

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27.

Afzal AR et al. (2000) Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

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28.

OMIM.ORG article

Omim 268310 [^]
29.

Orphanet article

Orphanet ID 1507 [^]
30.

Wikipedia article

Wikipedia EN (Robinow_syndrome) [^]
Update: April 29, 2019