Floating-Harbor Syndrome is rare disorder first described at Floating Hospital in Boston.

Chromosome: 16.p11.2

Gene affected: SRCAP (Snf2 related CREBBP activator protein), usually at exon 34 but ranging from 31 to 34


Facial features:

(1) trigonocephaly (with metopic suture synostosis)

(2) broad and bulbous nose with low haning columella

(3) deep set eyes

(4) short philtrum

(5) wide mouth with a thin vermilion border of the upper lip

(6) low-set ears


Orthopedic findings:

(1) short stature

(2) hypoplastic thumbs and other defects of the digits

(3) subluxated radial head

(4) Sprengel deformity (a congenital deformity of the scapula)

(5) delayed bone mineralization


Other findings:

(1) dysarthria and verbal dyspraxia with phoneme imprecision

(2) hypernasality

(3) high-pitched voice

(4) severe receptive and expressive language impairment

(5) some degree of intellectual impairment and/or learning disability

(6) hyperopia and/or strabismus

(7) conductive hearing loss

(8) seizures

(9) gastroesophageal reflux and/or consitpation

(10) urogenital anomalies

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