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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… Expand
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal dominant inheritanceDelayed eruption of teethHydronephrosisMacroglossia
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Broader (4)

Craniofacial AbnormalitiesDwarfismLimb Deformities, CongenitalUrogenital Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways… Expand
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Review
2016
Review
2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive… Expand
Highly Cited
2015
Highly Cited
2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and… Expand
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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… Expand
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… Expand
Highly Cited
2007
Highly Cited
2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and… Expand
Highly Cited
2004
Highly Cited
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… Expand
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… Expand
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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… Expand
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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… Expand
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