Robinow Syndrome

Known as: Robinow Syndrome, Autosomal Dominant, Robinow-Silverman-Smith Syndrome, ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES 
A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no… (More)
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal dominant inheritanceDelayed eruption of teethHydronephrosisMacroglossia
(More)

Broader (4)

Craniofacial AbnormalitiesDwarfismLimb Deformities, CongenitalUrogenital Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes… (More)
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.
It is fundamentally important that signaling gradients provide positional information to govern morphogenesis of multicellular… (More)
Is this relevant?
Highly Cited
2010
Highly Cited
2010
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is… (More)
Is this relevant?
2004
2004
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial… (More)
Is this relevant?
2003
2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
Perlecan is a large heparan sulfate (HS) proteoglycan present in all basement membranes and in some other tissues such as… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
1998
1998
Recessive Robinow syndrome: with emphasis on endocrine functions.
We present the characteristic features of 14 children with the recessive form of Robinow syndrome and the growth hormone (GH… (More)
Is this relevant?
1986
1986
Robinow syndrome without mesomelic 'brachymelia': a report of five cases.
A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 3
  • figure 5
Is this relevant?