Floating-Harbor syndrome

Definition:

Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease.

References:

[1]. Jan-Jaap Hendrickx, et al. Floating-Harbor syndrome associated with middle ear abnormalities. Am J Med Genet A. 2010 Jan;152A(1):161-4. [Content Brief]

[2]. Rebecca L Hood, et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012 Feb 10;90(2):308-13. [Content Brief]

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