Floating-harbor syndrome

Preferred Label : Floating-harbor syndrome;

Symbol : FLHS;

CISMeF acronym : FLHS;

Type : Phenotype, molecular basis known;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SNF2-related CBP activatory protein gene (SRCAP, 611421.0001);

Laboratory abnormalities : Normal endocrinologic studies (growth hormone, somatomedin C, thyroid function);

Prefixed ID : #136140;

Details

Origin ID

136140;

UMLS CUI

C0729582;

Automatic exact mappings (from CISMeF team)
- Floating-Harbor syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Floating-Harbor Syndrome [NCIt concept]
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [MeSH concept]
- floating-harbor syndrome [MeSH Supplementary Concept]
DO Cross reference
- Floating-Harbor syndrome [DO Concept]
Genes related to phenotype
- Snf2-related cbp activator protein [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Celiac disease [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Cognitive impairment [HPO term]
- Conductive hearing impairment [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Congenital posterior urethral valve [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Downturned corners of mouth [HPO term]
- Epididymal cyst [HPO term]
- Expressive language delay [HPO term]
- Hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Long eyelashes [HPO term]
- Low posterior hairline [HPO term]
- Mesocardia [HPO term]
- Nephrocalcinosis [HPO term]
- Persistent left superior vena cava [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nose [HPO term]
- Recurrent otitis media [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
- Varicocele [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Floating-Harbor syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Floating-Harbor Syndrome [NCIt concept]
- Floating-Harbor syndrome [ORDO Disease]
- Floating-Harbor syndrome [MedDRA Preferred Term]
- Floating-Harbor syndrome [DO Concept]
- Floating-Harbor syndrome (disorder) [SNOMED CT concept]
- Floating-harbor syndrome [MeSH concept]
- floating-harbor syndrome [MeSH Supplementary Concept]

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