Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.

ABSTRACT: Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionate short stature with delayed bone maturation, lack of expressive language, and distinctive facial features including a large nose, long eyelashes, deeply set eyes, and triangular face. Mutations in the SRCAP gene cause truncated SNF2-related CREBBP activator protein (SRCAP) and lead to FHS. SRCAP is one of several proteins that act as coactivator for the CREB-binding protein which is associated with Rubinstein-Taybi syndrome (RSTS). This condition likely explains the phenotypic overlap between FHS and RSTS. Herein, we report on a patient with FHS who also had dystrophic toenails, preauricular skin tag, and nasolacrimal duct obstruction which is also defined in patients with RSTS

SUBMITTER: Ercoskun P 

PROVIDER: S-EPMC7983618 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature