Robinow Syndrome

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Discipline:
Science
Subject:
Human Anatomy

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Robinow Syndrome

Robinow Syndromeaka "Fetal Face Syndrome"

Ashlee MacalinoMs. L. Lang Human Anatomy & Physiology / D21 September 2014

Works CitedBacino, Carlos. "ROR2-Related Robinow Syndrome." National Center for Biotechnology Information. U.S. National Library of Medicine, 25 Aug. 2011. Web. 20 Sept. 2014.Genetics Home Reference. "Robinow Syndrome." Genetics Home Reference. U.S. National Library of Medicine, 15 Mar. 2008. Web. 20 Sept. 2014.Kniffin, Cassandra L., and Victor A. McKusick. "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS." OMIM Entry - # 268310 - ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS. Online Mendelian Inheritance in Man, 16 Oct. 1986. Web. 20 Sept. 2014.National Organization for Rare Disorders. "Robinow Syndrome." Naional Organization for Rare Disorders. National Organization for Rare Disorders, 23 Nov. 2003. Web. 21 Sept. 2014.The University of Chicago Genetic Services Laboratories. "Robinow ] Syndrome Foundation." Robinow Syndrome Foundation. \ Robinow Syndrome Foundation, 2012. Web. 21 Sept. 2014.

Symptoms The syndrome is characterized by a variety of facial and structural abnormalities manifesting themselves in underdeveloped or misformed features. Common skeletel abnormalities inlcude shortening of the long bones in the arms and legs, wedge-shaped vertebrae, and generally short stature. Fused or missing ribs are also missing, along with scoliosis as a common feature. Symptomatic facial features include a broad forehead, a wide nasal bridge, wide-spaced eyes, and a short nose. Internal delayed development often results in kidney and heart defects and underdeveloped external reproductive parts.

Incidence Robinow syndrome is extremely rare and has only been recorded in less then 200 cases worldwide. A genetic pattern is seen as it is predominantly demonstrated in people of descent from countries such as Turkey, Oman, Brazil, and Pakistan. There is an autosomal inheritance so both copies of the gene have mutations.

TreatmentTreatment for Robinow syndrome involves the use of metal structural bracing. Alternatives also include surgical correction to bone structures affected. Growth hormones can also be used to remediate underdevelopment in the kidney and heart. Orthodontic treatment and scoliolis treatment are also commonly used.

http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=783

Organelle Affected by Robinow SyndromeRobinow Syndrome stems primarily from mutations in the ROR2 gene, stemming from chromosomal translation mutations, resulting in two types: autosomal dominant or recessive translation. The genetic mutation stems from inaccurate protein synthesis and transport that occurs both intracellular and extracellular. The organelle centrally affected are ribosomes which are responsible for protein manufacturing and synthesis. The ribosomes omit an important protein as a result of the ROR2 gene mutation, which causes the malformalities. ROR2, or Receptor Tyrosine Kinase-Like Orphan Receptor 2, is located on cell surfaces and receptors. The protein would have been made during embryonic development during synthesis and protein ordering located on the surface of the ribosomes. As a result, defective gene copies are replicated and the protein ROR2 is never made, resulting in underdeveloped anatomical structures in the individual.

Hierarchy of Structures AffectedThe molecules that are affected are the proteins, specifically ROR2 which is not produced, as a result of genetic mutations in DNA, stemming from nucleic acids. Bone and organ tissues are affected as a result of the lack of ROR2 protein, which are essential for cartilage and structural development. Various bones such as the femur, ribs, vertebrae, and teeth are often misformed or underdeveloped, resulting in difficulty functioning, such as walking. External genitalia are affected. The organ systems that are affected, resulting from underdeveloped heart and kidney, bone structures, and reproductive organs, are the skeletal, excretory, and reproductive systems. An underdeveloped kidney and heart can, but rarely, leads to organ failure.

Important FactsNot much is known about the specifics of Robinow since the syndrome occurs so rarely in individuals. No notable persons have the syndrome. The central support foundation is http://www.robinow.org/, the Robinow Syndrome Foundation.

http://www.cell.com/cms/attachment/2007964831/2030746325/gr1_lrg.jpg


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