Larsen syndrome

Preferred Label : Larsen syndrome;

Symbol : LRS;

CISMeF acronym : LRS;

Type : Phenotype, molecular basis known;

Description : Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication (summary by Bicknell et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the filamin B gene (FLNB, 603381.0004);

Prefixed ID : #150250;

Details

Origin ID

150250;

UMLS CUI

C0175778;

Automatic exact mappings (from CISMeF team)
- Larsen syndrome [ICD-11 More detail]
- Larsen syndrome [ORDO Disease]
- lactated ringer's solution [SNOMED Notion]
Currated CISMeF NLP mapping
- Larsen syndrome [Disease (Nov.)]
- Larsen syndrome [PASCAL descriptor]
- Larsen syndrome [DO Concept]
- Larsen syndrome [MedDRA Preferred Term]
- Larsen syndrome (disorder) [SNOMED CT concept]
- larsen syndrome [MeSH concept]
- larsen syndrome [MeSH Supplementary Concept]
- larsen syndrome [SNOMED Notion]
DO Cross reference
- Larsen syndrome [DO Concept]
False automatic mappings
- Liberia [NCIt concept]
Genes related to phenotype
- Filamin b [OMIM gene]
HPO term(s)
- Accessory carpal bones [HPO term]
- Anterior corneal lens opacities [HPO term]
- Aortic aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Bipartite calcaneus [HPO term]
- Bronchomalacia [HPO term]
- Cervical kyphosis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated wrist [HPO term]
- Dislocations of the wrists [HPO term]
- Elbow dislocation [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hip dislocation [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplastic cervical vertebrae [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Knee dislocation [HPO term]
- Malar flattening [HPO term]
- Multiple carpal ossification centers [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent forehead [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short nail [HPO term]
- Short stature [HPO term]
- Spatulate thumbs [HPO term]
- Spina bifida occulta [HPO term]
- Spinal cord compression [HPO term]
- Spondylolysis [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Tracheal stenosis [HPO term]
- Tracheomalacia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Larsen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Larsen syndrome [MedDRA Preferred Term]
- Larsen syndrome [DO Concept]
- Larsen syndrome [PASCAL descriptor]
- Larsen syndrome [Disease (Nov.)]
- Larsen syndrome (disorder) [SNOMED CT concept]
- larsen syndrome [MeSH concept]
- larsen syndrome [MeSH Supplementary Concept]
- larsen syndrome [SNOMED Notion]

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