Aarskog Syndrome

Renee Calvanese

Overview

Aarskog Syndrome is a disorder that can be passed down through a family's genes. It causes deformed facial features and body features or mutations (including face, hands, skeleton, height, muscles and genitals). It is more commonly found in males because it is linked to the X chromosome. Some deformations are subtle, some are widely noticeable.

Inheritance

This disorder is a genetic disorder, meaning if someone has it, it's because it's in their genes, someone in their family once had it and passed it down to them. It is also dominant, so if will show up if it is in someones family history, you can find this in a pedigree. It is not contagious, you cannot get it from touching someone. Aarskog Syndrome is located on the X chromosome, which means there are higher chances for males to have it, but there are possibilities for females to have it. Because males have a single X they cannot be carriers, they either have or do not have it. Whereas females have two Xs, so they can have it or not, or they could be carriers, meaning they are not affected by the disorder but can pass it on to their children. A carrier has a 50/50 chance of passing it down. If a female does in fact have the disorder it result in shorter height and small unusual facial features. But someone can only have it if their family genetics has a history with it.

Research/Studies


This particular disorder is rare and not know too much. Aarskog Syndrome can be found in someone with a family history with a pedigree, and fairly odd body features. A study was done by Lindsay J Logie and Mary E M Porteous, for boys who have mental problems and Aarskog Syndrome, they used the Griffiths Mental development scales to further study and research Aarskog Syndrome. X-rays can also determine if a patient has Aarskog Syndrome. There are lots of similar disorders and diseases to this one. like Down Syndrome or Noonan Syndrome. A study of Noonan Syndrome showed that it can cause a congenital disorder, and usually happens at birth with babies, the same thing can happen with Aarskog Syndrome. Noonan Syndrome has many of similar symptoms like abnormalities, so it may be hard to tell the difference between them without family history.

Symptoms

    Abnormalities from Aarskog Syndrome can mostly be seen at birth, the facial and body features will differ from a normal baby without Aaskog Syndome. X-ray tests can be done to see mutations on the body and skeleton to see if they have Aarskog Syndrome. Sometimes this disorder can affect the brain and result in mental problems, with intelligence though, and not behavior problems. Although there have been some cases with attention complications. Here are some symptoms: saggy eyelids, only one crease in the hands, slow teething, slow maturity, slant in eyes, "window's peak" hairline, sunken chest, mental problems, shorter height (in young kids), parts of face left undeveloped, rounded face, short fingers and toes, webbing between toes, inguinal hernia, small nose with upward pointing nostrils, folded ears, fold in lips, spread apart eyes, and a sticking-out belly button.

    Tests/Treatments

    There is not an exact cure for Aarskog Syndrome, but there are different treatments for different symptoms, like medication for mental problems or surgery for physical problems. There are many different doctors and specialists for each symptom. There are even health care plans to benefit someone with Aarskog Syndrome. Lots of different types of surgery can be done, and some may be required if the syndrome is affecting their heart or lungs. People with this disorder should be checked for it, with an x-ray test. Doctors can also look for mutations on a specific gene in order to determine whether or not someone has this disorder. For pregnant women who want to find out if their child will have it can have an ultrasound examining the baby's face, hands, and feet. Counseling and support is offered to families with Aarskog Syndrome, some families or people can benefit from this.

    Citations

    1. "Aarskog Syndrome." National Organization for Rare Disorders. NORD, 2012. Web. 4
      Apr. 2016. <http://rarediseases.org/rare-diseases/aarskog-syndrome/>.
    2. Haldeman-Englert, Chad. "Aarskog Syndrome." Medline Plus. U.S. National Library
      of Medicine, 29 Oct. 2013. Web. 4 Apr. 2016. <https://www.nlm.nih.gov/
      medlineplus/ency/article/001654.htm>.
    3. Stevenson, Roger E. "Aarskog Syndrome." The Gale Encyclopedia of Genetic
      Disorders. 2010. Gale Science in Context. Web. 4 Apr. 2016. http://ic.galegroup.com/ic/scic/ReferenceDetailsPage/ReferenceDetailsWindow?failOverType=&query=&prodId=SCIC&windowstate=normal&contentModules=&display-query=&mode=view&displayGroupName=Reference&limiter=&currPage=&disableHighlighting=false&displayGroups=&sortBy=&search_within_results=&p=SCIC&action=e&catId=&activityType=&scanId=&documentId=GALE%7CKSCMML897871908&source=Bookmark&u=down87562&jsid=d2d3d0fff4d80f3086d091e9b4e64c2d