Natural history in Malan syndrome: survey of 28 adults and literature review.

ABSTRACT:

Background

Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), and a range of psychobehavioral, musculoskeletal, vision and neurological signs. As MALNS and SS partly overlap, it is essential to more accurately profile their clinical presentations and highlight their differences in order to improve syndrome specific management. An increasing number of individuals with MALNS reach adult-age though the natural history of the disorder is poorly characterized due to the small number of adult individuals described so far. As a consequence, current guidelines are limited to the pediatric popu

SUBMITTER: Huynh TN 

PROVIDER: S-EPMC11288048 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature