Malan syndrome
| Malan syndrome | |
|---|---|
| Other names | Malan overgrowth syndrome, MALNS, Sotos-like syndrome, Sotos syndrome 2 |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, overgrowth, Marfanoid habitus, visual problems |
| Usual onset | Present at birth |
| Causes | NFIX mutation |
| Diagnostic method | Molecular genetic testing |
| Differential diagnosis | Marfan syndrome, Sotos syndrome, Weaver syndrome |
| Management | Based on symptoms |
| Frequency | 80 reported cases |
| Named after | Valérie Malan |
Malan syndrome (MALNS) is a rare overgrowth syndrome caused by autosomal dominant mutations in the NFIX gene. The syndrome is characterized by overgrowth, craniofacial dysmorphia, intellectual disability, and behavioral issues. It was formerly diagnosed as Sotos syndrome 2.