LRS
MCID: LRS001
MIFTS: 56
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Larsen Syndrome (LRS)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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MalaCards integrated aliases for Larsen Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
intrafamilial variation autosomal recessive inheritance has also been suggested joint dislocations become less frequent with age Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Respiratory diseases Ear diseases Smell/Taste diseases Mental diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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 dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning feet (clubfeet), are also common. Affected individuals 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).Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles).Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can also have abnormal curvature of the spine (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected. MalaCards based summary: Larsen Syndrome, also known as lrs, is related to desbuquois dysplasia 1 and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Glycosaminoglycan metabolism. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are depressed nasal bridge and hypertelorism GARD: 19 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 genetic changes in the FLNB gene. 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) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. Disease Ontology: 11 A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. Wikipedia: 75 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more... |
Human phenotypes related to Larsen Syndrome:58 30 (show top 50) (show all 60)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:150250 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Larsen Syndrome:45
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Cochrane evidence based reviews: larsen syndrome |
Organs/tissues related to Larsen Syndrome:
MalaCards :
Spinal Cord,
Bone,
Kidney,
Heart,
Trachea,
Tongue,
Skin
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Articles related to Larsen Syndrome:(show top 50) (show all 168)
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ClinVar genetic disease variations for Larsen Syndrome:5 (show top 50) (show all 178)
UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:73 (show all 12)
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Search
GEO
for disease gene expression data for Larsen Syndrome.
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Pathways directly related to Larsen Syndrome:
Pathways related to Larsen Syndrome according to GeneCards Suite gene sharing:
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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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