Floating Harbor syndrome

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Floating Harbor syndrome2016-11-25T20:54:22+00:00

Floating Harbor syndrome

Floating Harbor syndrome image from New Medical Terms

Boston Floating Hospital

PAEDIATRICS

Definition A rare genetic disorder (OMIM:136140) characterised by proportionate short stature, delayed bone age, delayed speech development, and typical facies—triangular face, bulbous nose, deep-set eyes, long eyelashes, wide columella, short philtrum, and thin lips. 

The condition’s name derives from the hospitals at which the first 2 patients were seen: the Boston Floating Hospital (for Children, Tufts University) and Harbor General Hospital in California. 

Molecular pathology Heterozygous mutation of SRCAP, which encodes a key ATPase that mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling, cause Floating Harbor syndrome.

References abstr, NORD database, raredisease.org www.floatinghospital.org/default

http://www.omim.org/entry/136140

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