Floating-Harbor Syndrome (FLHS)

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Disease Ontology 12 DOID:0111358 OMIM® 57 136140 KEGG 36 H02082 MeSH 44 C537062 D000015 SNOMED-CT 67 205810007 MESH via Orphanet 45 C537062

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 71 C0729582 Orphanet 58 ORPHA2044 MedGen 41 C0729582 SNOMED-CT via HPO 68 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 263681008 27911000 28740008 289190003 298203008 301348000 34911001 38101003 386806002 396232000 396331005 396347007 399939002 40159009 405752007 43064006 43077002 43476002 44057004 46871008 48638002 49263001 51070004 51406002 70142008 7305005 77978002 80093006 84445001 91138005 93250003 95427009 more UMLS 70 C0729582

MedlinePlus Genetics : ⁴³ 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.Growth deficiency in people with Floating-Harbor syndrome generally becomes apparent in the first year of life, and affected individuals are usually among the shortest 5 percent of their age group. Bone age is delayed in early childhood; for example, an affected 3-year-old child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12.Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability. Their development of motor skills, such as sitting and crawling, is similar to that of other children their age.Typical facial features in people with Floating-Harbor syndrome include a triangular face; a low hairline; deep-set eyes; long eyelashes; a large, distinctive nose with a low-hanging separation (overhanging columella) between large nostrils; a shortened distance between the nose and upper lip (a short philtrum); and thin lips. As affected children grow and mature, the nose becomes more prominent.Additionally some affected individuals have finger abnormalities that include short fingers (brachydactyly), widened and rounded tips of the fingers (clubbing), and curved pinky fingers (fifth finger clinodactyly). Other features of Floating-Harbor syndrome can include an unusually high-pitched voice and, in males, undescended testes (cryptorchidism).

MalaCards based summary : Floating-Harbor Syndrome, also known as flhs, is related to familial isolated trichomegaly and otopalatodigital syndrome, type i. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include bone, liver and eye, and related phenotypes are neurological speech impairment and short neck

Disease Ontology : ¹² A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has material basis in heterozygous mutation in SRCAP on chromosome 16p11.2.

GARD : ²⁰ 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.

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) (Updated 20-May-2021)

KEGG : ³⁶ Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease.

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ 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 (Updated 20-May-2021)

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

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