Putting a Spotlight On
Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disorder. Learn more below.
Wiedemann Steiner Syndrome
What is Wiedemann Steiner Syndrome?
Wiedemann-Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). It is inherited in an autosomal dominant fashion, but all cases reported so far were sporadic.
What are some symptoms of Wiedemann Steiner Syndrome?
Wiedemann-Steiner Syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc.
What are the causes of Wiedemann Steiner Syndrome?
Wiedemann–Steiner syndrome results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11.The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other genes.The condition is autosomal dominant, meaning that only one abnormal copy of the gene is needed for a person to have the syndrome. In a majority of cases to date, the mutation occurred de novo — that is, neither parent was affected and the mutation is sporadic. Offspring of those with WSS have a 50% chance of having WSS.
Those affected with Wiedemann-Steiner Syndrome often receive physical, occupational, speech, feeding, and/or behavioral therapies. Hippotherapy and music therapy have also been helpful to those affected by WSS. School-aged children affected with WSS may benefit from one-on-one aides, modified instruction, and/or special day class environments.
How is Wiedemann Steiner Syndrome diagnosed?
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. If Wiedemann–Steiner syndrome is suspected, analysis of the MLL gene can be carried out. Otherwise, it may be diagnosed by whole-exome sequencing or whole genome sequencing.
Resources:
https://en.wikipedia.org/wiki/Wiedemann%E2%80%93Steiner_syndrome
https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome
http://www.wssfoundation.org/wiedemann-steiner-syndrome/
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=319182
