What is NFIX?
NFIX is the name of a gene on chromosome 19 and variants in this gene are linked to Malan syndrome. A variant, also referred to as a mutation, means that some portion of the gene was deleted, duplicated or replaced. The NFIX gene encodes a protein that functions as a transcription factor. Transcription factors turn specific genes "on" or "off". Very little is known about the genes regulated by NFIX and the role they play in causing Malan syndrome.
When was Malan syndrome identified?
Malan syndrome was first reported in 2010 in a research publication by Valerie Malan and colleagues.
What are other names for Malan syndrome?
SOTOS-2 or Sotos-like syndrome
How many individuals are diagnosed with Malan syndrome?
There are around 150 individuals worldwide (as of December 2019) with a genetically-confirmed diagnosis of Malan syndrome. This number is likely to increase as genetic testing becomes more widely available.
Who can receive a Malan syndrome diagnosis?
Males and females of all different races and ethnic backgrounds can be born with a NFIX variation. Most often, the NFIX variant occurs spontaneously (de novo) in the individual but it is possible to inherit the variant from a parent.
Is there a treatment or cure for Malan syndrome?
At this time, there is no cure for Malan syndrome, however therapeutic measures/evaluations can help manage symptoms.
physical and occupational therapy
speech therapy including assistive technology for communication
hearing and low vision evaluations
What is the prognosis?
With so few patients evaluated so far, it is difficult to give a prognosis. As more individuals are diagnosed with Malan syndrome, the characteristic symptoms and prognosis will continue to evolve. In general, individuals diagnosed with Malan syndrome are happy, social and want to learn. Children often have global developmental delays and need aggressive Early Intervention services and school support.
Are there other syndromes associated with a change in the NFIX gene?
Yes, Marshall-Smith syndrome is linked to a change in the NFIX gene. In some cases, there is an overlap in symptoms and an individual could be diagnosed with both Malan and Marshall-Smith. To learn more about Marshall-Smith syndrome, visit the Marshall-Smith Research Foundation's website.
My child was just diagnosed with Malan syndrome, what should I do next?
The Malan Syndrome Foundation is here to provide support and helpful resources. If your child has a genetically confirmed change in the NFIX gene, please consider joining our patient registry. The registry includes a disease-specific questionnaire. The data collected from the patient registry will advance research and help us gain a better understanding of Malan syndrome. We also encourage you to fill out the Family Connect form to register your family with our organization.
Our organization has a secure parent support group for parents (or primary caregivers) of an individual with Malan syndrome. If you would like to be added to this secure WhatsApp group, please email us at firstname.lastname@example.org.
There is a Facebook support group for Malan syndrome. However, this support group is not administered by the Malan Syndrome Foundation.