Robinow syndrome

Common Name(s)

Robinow syndrome

Robinow syndrome is a rare genetic condition that causes bone (skeletal) abnormalities and a unique facial appearance. Skeletal features may include shortening of the long bones in the arms and legs, short fingers and toes (brachydactyly), abnormal development of the spinal bones (hemivertebrae) that can cause an abnormal curve in the spine (kyphoscoliosis), abnormal ribs and short stature. Other problems include underdeveloped external reproductive organs (genitalia), dental issues, kidney problems or heart defects. The unique facial features in a person with Robinow syndrome may include widely spaced eyes, a short nose with an upturned tip, and a wide nasal bridge.

There are two forms of this condition, an autosomal recessive and an autosomal dominant form. The autosomal recessive form of Robinow syndrome occurs when a person has inherited mutations in each of their two copies of the ROR2 gene. The gene that causes the autosomal dominant form of Robinow syndrome is unknown. Symptoms are similar in both forms, but seem to be milder in the autosomal dominant form of this condition.

This condition is typically diagnosed when the unique facial features are recognized by a genetics doctor (geneticist) or when the bone abnormalities are recognized on bone imaging (x-rays). Genetic testing of the ROR2 gene can be used to confirm the diagnosis. Treatment usually includes surgery to repair bone abnormalities and growth hormone treatment to help with growth hormone deficiency and short stature. Visiting with a genetic counselor can be useful to better understand the diagnosis. If your child has been diagnosed with Robinow syndrome, talk with their doctors and specialists about the most current treatment options available. Support groups are a good resource for additional information and to connect with other families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Robinow syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Robinow syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
 

Author(s): Janson J White, Juliana F Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, , Bregje W M van Bon, V Reid Sutton, James R Lupski, Han G Brunner, Claudia M B Carvalho

Journal: Am. J. Hum. Genet.. 2016 Mar;98(3):553-61.

 

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly ...

Last Updated: 5 Mar 2016

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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
 

Author(s): Janson White, Juliana F Mazzeu, Alexander Hoischen, Shalini N Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M Saraiva, Hanne Hove, Flemming Skovby, Hülya Kayserili, Elicia Estrella, Anneke T Vulto-van Silfhout, Marloes Steehouwer, Donna M Muzny, V Reid Sutton, Richard A Gibbs, , James R Lupski, Han G Brunner, Bregje W M van Bon, Claudia M B Carvalho

Journal: Am. J. Hum. Genet.. 2015 Apr;96(4):612-22.

 

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the ...

Last Updated: 4 Apr 2015

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Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
 

Author(s): Kieran J Bunn, Phil Daniel, Heleen S Rösken, Adam C O'Neill, Sophia R Cameron-Christie, Tim Morgan, Han G Brunner, Angeline Lai, Henricus P M Kunst, David M Markie, Stephen P Robertson

Journal: Am. J. Hum. Genet.. 2015 Apr;96(4):623-30.

 

Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes encoding components of the non-canonical Wnt signaling pathway. In contrast, germline mutations that act to increase canonical Wnt signaling lead to distinctive ...

Last Updated: 4 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Robinow syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Robinow syndrome.
 

Author(s): M A Patton, A R Afzal

Journal: J. Med. Genet.. 2002 May;39(5):305-10.

 

In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for ...

Last Updated: 15 May 2002

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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