This website provides information on patients with mutations in the NFIX gene, including clinical data, molecular data, management and research options.
The syndromes caused by variations in the NFIX gene include Malan syndrome and Marshall-Smith syndrome.
Malan syndrome and Marshall -Smith syndrome are multisystem disorders characterised by accelerated bone maturation, developmental delay and intellectual disability and characteristic facial dysmorphism. Spinal deformities are common in both. Marfanoid habitus is characteristic of Malan syndrome.
Not all individuals with a mutation in the NFIX gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NFIX gene.
Dr Shubha R Phadke, MD [Pediatrics], DM [Medical Genetics], Professor, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, firstname.lastname@example.org
Dr Haseena Sait, MD (Pediatrics), DM [Student], Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, email@example.com