This would include:
Sequencing of SRCAP exons 31–34 in all suspected cases
Complete assessments of auditory and visual systems
Renal and urinary tract ultrasound
Orthopedic assessment of hip dysplasia and clavicle abnormalities
Neurologic assessment if there is a suspicion of seizures
Dental hygiene to prevent cavities and to monitor for malocclusion
Evaluation for growth hormone deficiency at baseline, to be repeated if loss of growth velocity occurs
Monitoring of bone age and pubertal timing in case of precocious puberty
Psychoeducational assessments corrected for deficiencies in expressive language and sensory issues
Monitoring of behavioral disturbances and provision of early intervention
Counseling for families regarding recurrence risk and the offspring of individuals with FHSSpecial education programs and vocational training to address developmental disabilities are highly recommended, as well as communication rehabilitation with sign language or alternative means of communication. Behavior management strategies could also include referrals to behavior specialists or psychologists for help. For those concerned, genetic counseling can be sought for issues related to testing of at-risk relatives. History
The first identified instances occurred in 1973 at the Boston Floating Hospital, and in 1975 at Harbor General Hospital in Torrance, California. The name Floating–Harbor syndrome was coined by Robinson et al. in 1988. Since then approximately 40 more cases have been described.The first case recorded was that of a 5-year-old boy. In a 32-year follow up done in 2006, the patient was in good overall health, had never been hospitalized, and had been employed for the past 15 years. His mother stated he had a very good memory, was gregarious, had a temper, and at times was stubborn.
Changes in the patients facial configuration and body could be attributed to age and familial history (i.e., the patient shows signs of arthritis and hypertension). Still present were the low hairline, broad tip of the nose, short nasal labial distance, depressed columella, thin lips, and posteriorly positioned ears, as well as short stature and mild to moderate retardation. Recent research
In a study published in 2012 in the Journal of Pediatric Endocrinology, a group of scientists reported the long-term effects of a patient diagnosed with FHS undergoing growth hormone therapy from the age of 3.5 years to 9 years old. While the GH seemed to work initially, the patients growth after the first couple years slowed significantly and the patient reached a stable height far below the target or standard height. The results on GH therapy remain inconclusive.Recent research mostly centers around the search and confirmation of the gene responsible for FHS. As discussed in the mechanisms section, though the mutation of SRCAP is a widely accepted indicator of a patient diagnosed with FHS, it is not the cause in every case. References
External links
OMIM entry on Floating–Harbor syndrome and SRCAP
GeneReview/UW/NCBI/NIH entry on Floating–Harbor syndrome