Floating-Harbor Syndrome (FLHS)

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OMIM 57 136140 Orphanet 59 ORPHA2044 MESH via Orphanet 45 C537062 UMLS via Orphanet 74 C0729582 ICD10 via Orphanet 34 Q87.8

MedGen 42 C0729582 MeSH 44 D000015 KEGG 37 H02082 SNOMED-CT via HPO 69 263681008 396232000 204878001 204888000 48638002 43064006 40159009 301348000 28740008 253251006 44057004 249321001 249311009 95427009 128602000 22066006 246923005 80093006 246803005 38101003 93250003 399939002 43476002 228156007 247578003 91138005 224958001 84445001 27911000 298203008 199612005 22033007 396347007 229645001 289190003 51406002 253366007 405752007 70142008 7305005 14760008 225595004 229734008 396331005 123983008 237836003 77978002 249685004 249690001 34911001 253900005 249773003 16567006 46871008 51070004 43077002 49263001 25603007 302862001 302863006 80699009 60392001 716590006 202281000 386806002 more UMLS 73 C0729582

NIH Rare Diseases : ⁵³ Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild to moderate intellectual disabilities. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene and inheritance is autosomal dominant. The mutation can be inherited from a parent or can occur for the first time in a person with the syndrome. Communication issues and developmental disabilities may be helped with early intervention programs and special education.

MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to hyperaldosteronism, familial, type ii and hyperaldosteronism, familial, type iii. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and kidney, and related phenotypes are short neck and intellectual disability

Genetics Home Reference : ²⁵ Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.

OMIM : ⁵⁷ Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. (136140)

UniProtKB/Swiss-Prot : ⁷⁵ Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Wikipedia : ⁷⁶ Floating�??Harbor syndrome, also known as Pelletier�??Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews: NBK114458

Clinical features from OMIM:

136140

Search Clinical Trials , NIH Clinical Center for Floating-Harbor Syndrome

Search GEO for disease gene expression data for Floating-Harbor Syndrome.