Floating Harbor Syndrome

Moirangthem, Amita; Srivastava, Priyanka; Agarwal, Divya; Phadke, Shubha R.

doi:10.1007/s12098-016-2153-8

Cited by 6 publications

(4 citation statements)

References 5 publications

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“…Floating Harbor syndrome (FHS) lends its name after the two hospitals in the United States of America where FHS was first discovered: Boston Floating Hospital and Harbor General Hospital, respectively. [1][2][3][4] The prevalence of FHS is unknown as there have been few reported cases in the literature. FHS occurs due to heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene that is vital for normal cell division and growth in the initial developmental stages of life.…”

Section: Introductionmentioning

confidence: 99%

“…FHS occurs due to heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene that is vital for normal cell division and growth in the initial developmental stages of life. [4][5][6][7] Currently, approximately 65 individuals with SRCAP gene mutations have been reported globally. 7 Low birth weight is noted for individuals with FHS and, as the individual grows, apparent deficiencies in growth and development occur.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The prevalence of FHS is unknown as there have been few reported cases in the literature. FHS occurs due to heterozygous mutations in the Snf2‐related CREBBP activator protein ( SRCAP ) gene that is vital for normal cell division and growth in the initial developmental stages of life 4–7 . Currently, approximately 65 individuals with SRCAP gene mutations have been reported globally 7 …”

Section: Introductionmentioning

confidence: 99%

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Floating‐Harbor syndrome and provision of dental treatment: A case report of the dental considerations

Saeed,

Alsayer

2024

Special Care in Dentistry

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Floating‐Harbor syndrome (FHS) is a rare genetic syndrome with limited cases reported in the medical literature. It is an autosomal dominant condition with affected individuals carrying a pathogenic variant of the SRCAP gene. FHS cases show individuals having consistent facial features and differing levels of intellectual disability, which can affect their ability to receive different anaesthetic modalities and have capacity to consent for dental treatment. This case report focuses on the clinical management of a young adult with FHS requiring dental care with different treatment modifications tailored to the patient's individual needs. Further research and awareness of this syndrome is required to fully understand its consistent oral findings and varying intellectual abilities, to ensure appropriate and timely treatment provision.MeSH: dentistry, Floating–Harbor syndrome (FHS), SRCAP gene, clinical management

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Floating‐Harbor syndrome and provision of dental treatment: A case report of the dental considerations

Saeed,

Alsayer

2024

Special Care in Dentistry

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Perthes disease: A new finding in Floating‐Harbor syndrome

Milani

Scuvera

Gatti

et al. 2018

American J of Med Genetics Pt A

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Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS.

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Chiari I malformation as part of the Floating-Harbor syndrome?

Kurzbuch

Magdum

2016

European Journal of Medical Genetics

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Floating Harbor Syndrome

Cited by 6 publications

References 5 publications

Floating‐Harbor syndrome and provision of dental treatment: A case report of the dental considerations

Floating‐Harbor syndrome and provision of dental treatment: A case report of the dental considerations

Perthes disease: A new finding in Floating‐Harbor syndrome

Chiari I malformation as part of the Floating-Harbor syndrome?

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