Robinow syndrome

Common Name(s)

Robinow syndrome

Robinow syndrome is a rare disorder of skeletal development that affects many parts of the body. Researchers have identified two types of Robinow syndrome, which are distinguished by the severity of their signs and symptoms and by their patterns of inheritance.

Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; short stature; and distinctive facial features.  Other common features of this disorder include underdeveloped genitalia and dental problems (such as crowded teeth and overgrowth of the gums). Kidney and heart defects are also possible. Delayed development occurs in 10 percent to 15 percent of people with this condition, although intelligence is usually normal. Mutations in the ROR2 gene cause autosomal recessive Robinow syndrome.

The signs and symptoms of autosomal dominant Robinow syndrome are similar, but tend to be milder than those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form. The autosomal dominant form is less frequent and the genetic cause is unknown.

 

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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 12 free, full-text research articles on human participants. First 3 results:

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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RYK is not mutated in autosomal dominant Robinow syndrome.
 

Author(s): Juliana F Mazzeu

Journal: J. Biol. Chem.. 2013 Jan;288(4):2905.

 

Last Updated: 28 Jan 2013

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WNT5A mutations in patients with autosomal dominant Robinow syndrome.
 

Author(s): Anthony D Person, Soraya Beiraghi, Christine M Sieben, Spencer Hermanson, Ann N Neumann, Mara E Robu, J Robert Schleiffarth, Charles J Billington, Hans van Bokhoven, Jeannette M Hoogeboom, Juliana F Mazzeu, Anna Petryk, Lisa A Schimmenti, Han G Brunner, Stephen C Ekker, Jamie L Lohr

Journal: Dev. Dyn.. 2010 Jan;239(1):327-37.

 

Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown; however, ...

Last Updated: 24 Dec 2009

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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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