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MCID: LRS001
MIFTS: 46
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Larsen Syndrome
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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MalaCards integrated aliases for Larsen Syndrome:
Characteristics:Orphanet epidemiological data:59
autosomal dominant larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
intrafamilial variation autosomal recessive inheritance has also been suggested joint dislocations become less frequent with age HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
Larsen syndrome is a disorder of the 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, feet, and fingers, with square-shape finger tips. The X-rays usually show small extra bones in their wrists and ankles. Other features may include short stature, hypermobility, cleft palate, hearing loss, and an abnormal curvature of the spine that may result in weakness of the arms and/or legs and other complications. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Treatment depend on the problems that are present, and may include surgeries for hip dislocation, and/or to stabilize the spine, and/or to correct a cleft palate. Physiotherapy is indicated in most cases.
There are several bone disorders that are caused by mutations in the FLNB gene. Some are considered mild (spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe (atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia).
MalaCards based summary : Larsen Syndrome, also known as larsen syndrome, dominant type, is related to multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects and reunion island larsen syndrome. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Focal adhesion and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include bone, spinal cord and brain, and related phenotypes are malar flattening and hypertelorism OMIM : 57 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). (150250) UniProtKB/Swiss-Prot : 75 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 : 25 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). Disease Ontology : 12 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. Wikipedia : 76 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:150250Human phenotypes related to Larsen Syndrome:59 32 (show top 50) (show all 59)
GenomeRNAi Phenotypes related to Larsen Syndrome according to GeneCards Suite gene sharing:26
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Cochrane evidence based reviews: joint dislocations |
MalaCards organs/tissues related to Larsen Syndrome:41
Bone,
Spinal Cord,
Brain
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Articles related to Larsen Syndrome:(show top 50) (show all 87)
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Genes related to Larsen Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:75 (show all 12)
ClinVar genetic disease variations for Larsen Syndrome:6
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Search
GEO
for disease gene expression data for Larsen Syndrome.
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Pathways related to Larsen Syndrome according to KEGG:37
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Cellular components related to Larsen Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Larsen Syndrome according to GeneCards Suite gene sharing:
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