Overview
Floating-Harbor Syndrome (FHS) is an autosomal dominant genetic disorder characterized by short stature, delayed bone maturation, expressive language impairment, distinctive facial features, and cognitive deficits including attention, mathematical, and visuospatial abilities 12345.Diagnosis
Clinical Features: Short stature, delayed bone age, expressive language impairment, characteristic facial dysmorphology, and cognitive deficits 12345.
Additional Diagnostic Signs: High-pitched voice and supernumerary upper incisor 5.
Laboratory Tests: Elevated gliadin antibody levels may suggest coeliac disease, warranting further investigation 5.
Genetic Testing: Identification of mutations in the SRCAP gene 1.Management
Speech-Language Therapy: Essential for addressing expressive and receptive language impairments, phonologic issues, and improving speech intelligibility 2.
Neuropsychological Support: Tailored interventions to address cognitive deficits including attention, mathematical, and visuospatial abilities 3.
Mental Health Support: Consideration for mood disorder management, particularly in affected adults 3.Special Populations
Pediatrics: Early intervention in speech and language development is crucial 25.
Comorbidities: Monitor for and manage coeliac disease indicated by elevated gliadin antibodies 5.Key Recommendations
Conduct comprehensive speech-language evaluations and initiate early intervention programs to address language impairments (Evidence: Moderate 2).
Perform genetic testing focusing on SRCAP mutations for definitive diagnosis (Evidence: Strong 1).
Regular neuropsychological assessments to manage cognitive deficits and tailor educational support (Evidence: Moderate 3).
Screen for and manage coeliac disease through serological testing in patients with suggestive symptoms or signs (Evidence: Weak 5).References
1 Hood RL, Schenkel LC, Nikkel SM, Ainsworth PJ, Pare G, Boycott KM et al.. The defining DNA methylation signature of Floating-Harbor Syndrome. Scientific reports 2016. link
2 Angelillo N, Di Costanzo B, Barillari U. Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. Journal of communication disorders 2010. link
3 Rosen AC, Newby RF, Sauer CM, Lacey T, Hammeke TA, Lubinsky MS. A further report on a case of Floating-Harbor Syndrome in a mother and daughter. Journal of clinical and experimental neuropsychology 1998. link
4 Fryns JP, Kleczkowska A, Timmermans J, van den Berghe H. The Floating-Harbor syndrome: two affected siblings in a family. Clinical genetics 1996. link
5 Ala-Mello S, Peippo M. Two more diagnostic signs in the Floating-Harbor syndrome. Clinical dysmorphology 1996. link