Floating-Harbor Syndrome Overview
Learn About Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene plays a key role in regulating cell growth and division and is important for normal development.
Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Prospect Ct Medical Foundation Inc
Yasmine Khan is an Endocrinologist in Vernon, Connecticut. Dr. Khan and is rated as an Experienced provider by MediFind in the treatment of Floating-Harbor Syndrome. Her top areas of expertise are Type 2 Diabetes (T2D), Thyroid Storm, Obesity in Children, and Hyperthyroidism.
Starling Physicians, PLLC
Pixie Plummer is a Pediatrics specialist and an Internal Medicine provider in Bloomfield, Connecticut. Dr. Plummer and is rated as an Experienced provider by MediFind in the treatment of Floating-Harbor Syndrome. Her top areas of expertise are Down Syndrome, Autism Spectrum Disorder, Cerebral Palsy, and Amblyopia. Dr. Plummer is currently accepting new patients.
Baystate Medical Practices Inc
Michael Singh is a Cardiologist and a Pediatrics provider in Springfield, Massachusetts. Dr. Singh and is rated as an Advanced provider by MediFind in the treatment of Floating-Harbor Syndrome. His top areas of expertise are Congenital Heart Disease (CHD), Marfan Syndrome, Truncus Arteriosus, and Arachnodactyly. Dr. Singh is currently accepting new patients.
Published Date: December 01, 2012
Published By: National Institutes of Health