Floating-Harbor Syndrome (FLHS)

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OMIM 58 136140 KEGG 38 H02082 MeSH 45 D000015 MESH via Orphanet 46 C537062 ICD10 via Orphanet 35 Q87.8

UMLS via Orphanet 75 C0729582 Orphanet 60 ORPHA2044 MedGen 43 C0729582 SNOMED-CT via HPO 70 123983008 128602000 14760008 16567006 199612005 202281000 204878001 204888000 22033007 22066006 224958001 225595004 228156007 229645001 229734008 237836003 246803005 246923005 247578003 249311009 249321001 249685004 249690001 249773003 253251006 253366007 253900005 25603007 263681008 27911000 28740008 289190003 298203008 301348000 302862001 302863006 34911001 38101003 386806002 396232000 396331005 396347007 399939002 40159009 405752007 43064006 43077002 43476002 44057004 46871008 48638002 49263001 51070004 51406002 60392001 70142008 716590006 7305005 77978002 80093006 80699009 84445001 91138005 93250003 95427009 more UMLS 74 C0729582

NIH Rare Diseases : ⁵⁴ 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 neurological speech impairment

Genetics Home Reference : ²⁶ 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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50... 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.