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
