Learn About Robinow Syndrome

What is the definition of Robinow Syndrome?

Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant.

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What are the causes of Robinow Syndrome?

Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears to play a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts development starting before birth and leads to the characteristic features of Robinow syndrome.

How prevalent is Robinow Syndrome?

Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare.

Is Robinow Syndrome an inherited disorder?

As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance.

Who are the top Robinow Syndrome Local Doctors?
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Highly rated in
8
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University Of Brasília

Brasilia, DF, BR 

Juliana Mazzeu is in Brasilia, Brazil. Mazzeu is rated as an Elite expert by MediFind in the treatment of Robinow Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Robinow Syndrome, Genital Dwarfism, Acromicric Dysplasia, and Isolated Growth Hormone Deficiency.

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Medical Genetics

Texas Childrens Hospital

Baylor College Of Medicine/Texas Children`s Hospital

6701 Fannin St 
Houston, TX 77030

Vernon Sutton is a Pediatrics specialist and a Medical Genetics doctor in Houston, Texas. Dr. Sutton is rated as a Distinguished doctor by MediFind in the treatment of Robinow Syndrome. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Osteogenesis Imperfecta, Genital Dwarfism, Robinow Syndrome, and Acropectoral Syndrome. He is licensed to treat patients in Texas. Dr. Sutton is currently accepting new patients.

 
 
 
 
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Radboud University Medical Center

Maastricht, LI, NL 

Han Brunner is in Maastricht, Netherlands. Brunner is rated as a Distinguished expert by MediFind in the treatment of Robinow Syndrome. They are also highly rated in 57 other conditions, according to our data. Their top areas of expertise are Genital Dwarfism, Robinow Syndrome, Meier-Gorlin Syndrome, and Acro-Pectoro-Renal Field Defect.

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Who are the sources who wrote this article ?

Published Date: February 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Robinow Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.