Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Floating-Harbor Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth & plotting of growth parametersSyndrome-specific charts are currently not available for children w/a SRCAP pathogenic variant.
Eyes Ophthalmologic exam
ENT Audiology eval(See Hereditary Hearing Loss and Deafness Overview for details of eval.)
Dental eval
Genitourinary
  • Renal ultrasound exam
  • Blood pressure assessment
  • Assessment for cryptorchidism in males
Musculoskeletal Orthopedic assessmentEval for hip dysplasia & clavicular anomalies
Other Multidisciplinary developmental evalIncl assessment of gross & fine motor skills, speech/language, cognitive abilities, & vocational skills w/special attn to speech delay & anomalies
Consultation w/clinical geneticist &/or genetic counselor

From: Floating-Harbor Syndrome

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