Hazel Gwen V Encluna, Northern Mindanao Medical Center, Philippines

Hazel Gwen V Encluna

Northern Mindanao Medical Center, Philippines

Presentation Title:

The first filipino case of Floating -Harbor Syndrome presenting as facial dysmorphic features with growth and developmental delay

Abstract

Floating-Harbor Syndrome (FHS) is a rare autosomal dominant disorder characterized by proportionate short stature, distinctive facial dysmorphisms, and significant speech and language delay. We report the first documented case of FHS in the Philippines in a 10-year-old Filipino child who presented with poor linear growth and characteristic facial features, including a triangular facie, deep -seat eyes, a prominent nasal tip, a short philtrum, a thin upper lip, and low -set ears. Developmental assessment showed profound speech and language delay. He is the only child of a non -consanguineous Filipino parent s, with no other family history of the similar condition. Whole exome sequencing identified a de novo heterozygous pathogenic variant (c.7330c>T p.Arg2444) in the SRCAP gene, confirming the diagnosis. He is currently undergoing monthly growth hormone therapy with somatropin to promote linear growth and receiving regular speech and language therapy. 

Early diagnosis and intervention are critical for improving long -term outcomes in FHS. Recombinant human growth hormone therapy has been shown to accelerate growth in affected individuals, while early intervention may enhance speech and language development. This case underscores the importance of recognizing the hallmark features of FHS, particularly in underreported populations. A multidisciplinary approach involving genetic confirmation, endocrinologic management, and neurodevelopmental intervention is essential for optimizing patient outcomes. Increased awareness among clinicians may facilitate early detection and intervention, ultimately improving prognosis and quality of life in children with Floating -Harbor Syndrome.

Biography

Hazel Gwen V. Encluna, RMT, MD is a Pediatric Resident at the Department of Pediatrics of Northern Mindanao Medical Center. She obtained her Doctor of Medicine degree from Matias H. Aznar Memorial College of Medicine and is also a licensed Medical Technologist. Her medical training reflects a strong foundation in both laboratory medicine and clinical pediatrics, supporting her interest in accurate diagnosis and comprehensive child healthcare.