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

 

Condition Specific 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 16 free, full-text research articles on human participants. First 3 results:

Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time.
 

Author(s): Fatma Çiftci, Sümeyye Ayöz, Aydın Çiledağ, Akın Kaya

Journal: Tuberk Toraks. 2014 ;62(4):319-21.

 

Last Updated: 13 Jan 2015

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Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
 

Author(s): Parag M Tamhankar, Lakshmi Vasudevan, Shweta Kondurkar, K Yashaswini, Sunil Kumar Agarwalla, Mohandas Nair, T V Ramkumar, Nitin Chaubal, Vasundhara Sridhar Chennuri

Journal: J Clin Res Pediatr Endocrinol. 2014 ;6(2):79-83.

 

Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A ...

Last Updated: 17 Jun 2014

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Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome.
 

Author(s): Philipp Andre, Yingzi Yang

Journal: J. Biol. Chem.. 2013 Jan;288(4):2906.

 

Last Updated: 7 Mar 2013

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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

There are currently no open clinical trials for this condition.