Floating-Harbor Syndrome

Alternative Names

  • FHS
  • Leisti-Hollister-Rimoin syndrome
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

136140

Mode of Inheritance

Autosomal Dominant

Gene Map Locus

16p11.2

Description

Floating-Harbor syndrome (FHS) is a rare genetic disorder described by facial dysmorphism, short stature with delayed bone age, and delayed speech development. The facial traits consist of a triangular shaped face with deep set eyes and long eye lashes, large bulbous nose with a broad nasal bridge, wide columella, short philtrum, and a wide mouth with thin lips. FHS is diagnosed through clinical phenotype especially depending on facial dysmoprphism. Differential diagnosis includes Rubinstein-Taybi syndrome and monosomy 22q11. The age of onset of FHS was found to be neonatal/infancy. Floating-Harbor syndrome cases are reported for both males and females but are found to be more frequent in females.

Mutations in SRCAP (Snf2 Related CREBBP Activator Protein) gene is responsible for causing FHS. It is mapped to the chromosomal region 16p11.2 and is involved in transcriptional regulation by chromatin remodeling.

Epidemiology in the Arab World

View Map

Other Reports

Kuwait

The first case of Floating-Harbor syndrome in Kuwait was reported by Bastaki et al. (2007). The case represented an 8.5 years Kuwaiti female weighing 2.15kg born to non-consanguineous parents (mother and father aged 27 and 37 years, respectively). The subject had three phenotypically normal siblings, two sisters and one brother; one of her sisters was diagnosed with mosaic Turner syndrome.

© CAGS 2024. All rights reserved.