About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Diagnosis of DOOR Syndrome

Last Updated on Sep 20, 2018
Font : A-A+

How do you Diagnose DOOR Syndrome?

DOOR syndrome is diagnosed based on clinical symptoms, imaging (e.g. x-ray), genetic testing and a detailed family history.

When a baby is born, the physical abnormalities, such as shortened fingers and toes, or an extra bone in the thumb, should be taken as clinical indicators to test for hearing loss.

Advertisement

Specialized hearing tests help to confirm suspected deafness in the initial months of the baby’s life.

Genetic tests help to identify potential TBC1D24 mutations or variations. In DOOR syndrome, TBC1D24 variations are inherited in an autosomal recessive manner (where the child inherits a mutated version of TBC1D24 from each parent). The mutations in TBC1D24 give rise to varied clinical changes in the brain, bones, and ears. However, there are cases of DOOR syndrome where TBC1D24 is normal. 

Elevated levels of 2-oxoglutaric acid are detected in the plasma (colorless portion of blood) and urine of those with DOOR syndrome. The reasons for this are unclear

Advertisement

The following investigations help to identify and confirm the diagnosis of DOOR.

  • MRI helps to record cross-sectional pictures of the brain with the help of radio waves and magnetic field.
  • EEG is used to record irregular electrical activity in the brain.
  • CT scan creates cross-sectional pictures of the brain with the help of x-rays, which is then displayed on the computer.

References:

  1. Genetics Home Reference. DOORS syndrome. Published August 2018. Cited September 4, 2018. - (https://ghr.nlm.nih.gov/condition/doors-syndrome)
  2. NORD – National Organization for Rare Disorders. DOOR syndrome. Published 2015; Cited September 4, 2018. - (https://rarediseases.org/rare-diseases/door-syndrome/)
  3. Mucha BE et al. TBC1D24-Related Disorders. 2015 Feb 26 [Updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. - (https://www.ncbi.nlm.nih.gov/books/NBK274566/)
  4. MedlinePlus. Sensorineural deafness. Updated August 31, 2018. Accessed September 6, 2018. Cited September 6, 2018. - (https://medlineplus.gov/ency/article/003291.htm)
  5. Orphanet. Doors syndrome. Updated September 2014; Cited September 4, 2018.
  6. Berkovic SF, Gecz J. Phenotype-genotype complexities: opening DOORS. Lancet Neurol. 2013;Vol.13(1):24-25.
  7. Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5.
  8. Rehman A, Friedman T, Griffith A. Unresolved questions regarding human hereditary deafness. Oral diseases. 2017;23(5):551-558. doi:10.1111/odi.12516.

Citations   close

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Dr. Smitha S. Dutt. (2018, September 20). Diagnosis of DOOR Syndrome. Medindia. Retrieved on May 21, 2022 from https://www.medindia.net/patientinfo/how-do-you-diagnose-door-syndrome.htm.

  • MLA

    Dr. Smitha S. Dutt. "Diagnosis of DOOR Syndrome". Medindia. May 21, 2022. <https://www.medindia.net/patientinfo/how-do-you-diagnose-door-syndrome.htm>.

  • Chicago

    Dr. Smitha S. Dutt. "Diagnosis of DOOR Syndrome". Medindia. https://www.medindia.net/patientinfo/how-do-you-diagnose-door-syndrome.htm. (accessed May 21, 2022).

  • Harvard

    Dr. Smitha S. Dutt. 2021. Diagnosis of DOOR Syndrome. Medindia, viewed May 21, 2022, https://www.medindia.net/patientinfo/how-do-you-diagnose-door-syndrome.htm.


Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Advertisement
Health Topics A - Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



    Advertisement
    What's New on Medindia
    Prevent Hacking of Medical Devices: FDA Sounds Alarm
    Black Water: Benefits and Uses
    World Hypertension Day 2022 - Measure Blood Pressure Accurately, Control It, Live Longer!
    View all
    Advertisement

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    How to Reduce School Bag Weight - Simple Tips Noscaphene (Noscapine) Sinopril (2mg) (Lacidipine) Pregnancy Confirmation Calculator Indian Medical Journals Blood Pressure Calculator Calculate Ideal Weight for Infants Drug - Food Interactions Drug Interaction Checker Drug Side Effects Calculator

    Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

    © All Rights Reserved 1997 - 2022

    This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use