After five years of searching, we finally received Collin's diagnosis of Wiedemann-Steiner Syndrome via whole exome sequencing in December of 2013.
Wiedemann-Steiner Syndrome is a rare disease linked to a mutation on the MLL gene. Most known cases have been de novo mutations, meaning that the individual did not inherit the genetic anomaly from either parent. Characteristics of the syndrome vary widely, both in type and severity, but often include developmental delays, short stature, low muscle tone, and unique facial features and hair growth patterns.
Collin presents some but not all of the common Wiedemann-Steiner features and also has delayed visual maturation, central sleep apnea, and a feeding disorder that requires use of a g-tube. Additionally, Collin is currently one of the only people with Wiedemann-Steiner Syndrome known to also exhibit Infantile Spasms, a catastrophic form of pediatric epilepsy.
Wiedemann-Steiner Syndrome is rare and little is known about it at this time. However, as whole exome sequencing becomes more widely available, more and more cases are being diagnosed all the time. Several geneticists are currently taking a more thorough look at the disorder, and as parents of WSS kiddos find each other in the online community, more and more information is coming to light.
Have you or someone you know been diagnosed with Wiedemann-Steiner Syndrome? You are not alone! Join our growing online community for support:
Parents and primary caregivers: Visit this closed Facebook group and request to join.
Individuals with WSS, other family members, and friends: Visit this closed group and request to join.
Also, email me at thisrareday [at] gmail [dot] com.