Wiedemann–Steiner syndrome - Wikipedia
Wiedemann–Steiner syndrome (WSS)[2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. [4] .
Wiedemann-Steiner Syndrome - Symptoms, Causes, Treatment
2023年6月29日 · Wiedemann-Steiner syndrome (WSS) is a rare genetic condition that can affect multiple organ systems. Many patients with this condition have symptoms including developmental delay, intellectual disability or autism and excessive hair growth in unusual places on the body (hypertrichosis).
Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf
2022年5月26日 · Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
Wiedemann-steiner syndrome | About the Disease | GARD
Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner.
What is Wiedemann-Steiner Syndrome? - WSS Foundation
Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. The syndrome was clinically described in 1989, but was not genetically identified until 2012 by a group of researchers in England lead by Dr. Wendy Jones.
Wiedemann-Steiner syndrome - NIH Genetic Testing Registry …
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
About Wiedemann Steiner Syndrome
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 …
Wiedemann-Steiner Syndrome (WSS) Foundation
The Wiedemann-Steiner Syndrome Foundation (WSSF) is dedicated to breaking down barriers to care for patients by advancing critical research. We believe that a deeper understanding of the …
Entry - #605130 - WIEDEMANN-STEINER SYNDROME; WDSTS
2018年4月24日 · Wiedemann-Steiner syndrome (WDSTS) is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intelle...
Claudia WEIDENSTEINER | Senior Researcher | PhD, MS, Diplom-Physikerin ...
Claudia Weidensteiner is currently working in the field of medical imaging at the Department of Radiology, University Hospital Basel, Switzerland. She conducts clinical studies with MRI,...