Wiedemann-Steiner syndrome is a rare genetic disorder which can cause developmental delay, feeding challenges, short stature, and low muscle tone.
It is inherited in an autosomal dominant fashion, which means that typically neither the mother nor the father will carry the syndrome in their genes. Rather, the syndrome develops because of a spontaneous genetic mutation in the fertilized embryo that becomes the child.
Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A) gene on the long arm of chromosome 11 . KMT2A is a histone-modification enzyme, meaning that it helps modify the expression of other genes. So children who are missing this histone-modification enzyme in development will carry a number of resulting symptoms.
The syndrome was originally described by Wiedemann in 1989.
Children with WSS will often display some of the following: long eyelashes, developmental delays, hairy arms close to the elbow, hypotonia, motor delays, unusual facial features (dysmorphism), feeding challenges, and a high arched palate.
With the advent of whole exome sequencing, there are now more children being diagnosed with milder forms of this syndrome. This means that rather than demonstrating severe symptoms clinically, they may be demonstrating some subset of the symptoms to a lesser degree.
Click here to read about Wiedemann-Steiner syndrome at Wikipedia.
Click here to read about Wiedemann-Steiner syndrome at OMIM (Online Mendelian Inheritance in Man), a site of the Johns Hopkins University.
[Please note that this is a site built by parents, not doctors. Any medical information on this site is not to be taken as a diagnosis or cure and you should consult with a doctor about your situation and any therapies.]