Larsen Syndrome malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
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Aliases & Descriptions for Larsen Syndrome:
Orphanet epidemiological data:52
autosomal dominant larsen syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
OMIM:50 Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial... (150250) more...
MalaCards based summary: Larsen Syndrome, also known as lrs, is related to larsen syndrome, autosomal recessive and reunion island larsen syndrome, and has symptoms including malar flattening, hypertelorism and brachydactyly syndrome. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways is dermatan sulfate biosynthesis. Affiliated tissues include bone, spinal cord and lung.
Disease Ontology:11 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
NIH Rare Diseases:46 Larsen syndrome is a condition that causes abnormal development of the bones. signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the flnb gene. management may include surgeries (especially for hip dislocation), and physiotherapy. last updated: 3/31/2014
UniProtKB/Swiss-Prot:68 Larsen syndrome: 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.
Genetics Home Reference:24 Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate).
Wikipedia:69 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...
Symptoms by clinical synopsis from OMIM:150250
Clinical features from OMIM:150250
Symptoms:52 (show all 27)
HPO human phenotypes related to Larsen Syndrome:(show all 68)
UMLS symptoms related to Larsen Syndrome:joint laxity
Drugs for Larsen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 48)
Interventional clinical trials:(show all 21)
Search NIH Clinical Center for Larsen Syndrome
MalaCards organs/tissues related to Larsen Syndrome:34
Bone, Spinal cord, Lung, Kidney, Brain
Articles related to Larsen Syndrome:(show top 50) (show all 81)
UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:68 (show all 12)
Clinvar genetic disease variations for Larsen Syndrome:5 (show all 12)
Search GEO for disease gene expression data for Larsen Syndrome.
Pathways related to Larsen Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet