SRCAP FLHS

Clinical Characteristics

All individuals with Floating-Harbor syndrome are short (typical adult height is between 140-155cm) and have impairments in their speech and language, although the severity of intellectual disability is variable. Other features include particular shared facial features such as a prominent nose, deep-set eyes and a triangular-shaped face. Certain medical conditions are associated with the condition – they are not present in all individuals with Floating-Harbor, but they are more common than in the general population. These are described below:

  • Poor growth, often noted in the first year of life, with poor feeding, sometimes complicated by gastro-intestinal problems such as ‘reflux’ (gastro-oesophageal reflux disorder) and constipation. These may require medical treatment.
  • Minor impairments in vision and hearing such as a squint or ‘glue ear’.
  • Minor problems with genitalia including undescended testes.
  • Kidney problems such as cysts or swelling of the kidney (hydronephrosis).
  • Seizures or epilepsy have been reported in a small number of individuals with Floating-Harbor syndrome.
  • Early puberty can sometimes be a feature (below 8 years in girls or 9 years in boys).
  • Congenital heart problems have rarely been reported in the condition.