LRS
MCID: LRS001
MIFTS: 62

Larsen Syndrome (LRS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Larsen Syndrome

MalaCards integrated aliases for Larsen Syndrome:

Name: Larsen Syndrome 56 12 74 52 25 58 73 36 29 13 6 15 39 71
Larsen Syndrome, Dominant Type 74 29 6 71
Lrs 56 52 25 73
Autosomal Dominant Larsen Syndrome 52
Dominant Larsen Syndrome 12
Joint Dislocations 43
Larsens Syndrome 54

Characteristics:

Orphanet epidemiological data:

58
larsen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variation
autosomal recessive inheritance has also been suggested
joint dislocations become less frequent with age


HPO:

31
larsen syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Larsen Syndrome

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 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 larsen syndrome, dominant type, is related to spondyloepiphyseal dysplasia with congenital joint dislocations 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 Focal adhesion and Metabolism. The drugs Propofol and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and eye, and related phenotypes are depressed nasal bridge and hypertelorism

Disease Ontology : 12 Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.

NIH Rare Diseases : 52 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 ).

OMIM : 56 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)

KEGG : 36 Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Related Diseases for Larsen Syndrome

Diseases in the Larsen Syndrome family:

Larsen-Like Syndrome

Diseases related to Larsen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 327)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 33.5 SLC26A2 GALNS CHST3 CANT1
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 33.1 CHST3 B4GALT7 B3GAT3
3 desbuquois dysplasia 1 32.9 XYLT1 CANT1
4 larsen-like syndrome b3gat3 type 31.6 XYLT1 CHST14 CANT1 B4GALT7 B3GAT3 B3GALT6
5 ehlers-danlos syndrome 31.5 FLNA CHST14 B4GALT7 B3GALT6
6 boomerang dysplasia 31.3 SLC35D1 SLC26A2 FLNB FLNA B4GALT7
7 congenital joint dislocations 31.2 CHST3 BPNT2
8 multiple epiphyseal dysplasia 30.1 SLC26A2 FLNB CANT1
9 tracheomalacia 30.1 TBX4 GALNS FLNB
10 clubfoot 30.0 TBX4 SLC26A2 CHST3 CHST14
11 spondyloepimetaphyseal dysplasia, matrilin-3 related 29.8 SLC26A2 GALNS CHST3 B3GALT6
12 scoliosis 29.8 XYLT1 FLNB FLNA CANT1
13 odontochondrodysplasia 28.7 XYLT1 SLC35D1 SLC26A2 GALNS FLNB FLNA
14 chondrodysplasia with joint dislocations, gpapp type 12.8
15 primary bone dysplasia with multiple joint dislocations 12.5
16 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.6
17 intellectual developmental disorder with short stature, facial anomalies, and speech defects 11.5
18 duane retraction syndrome 3 with or without deafness 11.5
19 cutis laxa, autosomal recessive, type iiia 11.4
20 reunion island larsen-like syndrome 11.4
21 acromesomelic dysplasia, hunter-thompson type 11.3
22 pseudodiastrophic dysplasia 11.3
23 ehlers-danlos syndrome, musculocontractural type, 2 11.3
24 atelosteogenesis, type iii 11.2
25 bone dysplasia, lethal, holmgren type 11.2
26 atelosteogenesis, type i 11.1
27 multiple pterygium syndrome, lethal type 11.1
28 three m syndrome 1 11.1
29 neuropathy, hereditary sensory and autonomic, type vii 11.1
30 anauxetic dysplasia 3 11.1
31 spondyloepimetaphyseal dysplasia with multiple dislocations 11.1
32 hepatocellular carcinoma 10.5
33 flnb disorders 10.4
34 spondyloepiphyseal dysplasia congenita 10.3 GALNS CHST3
35 colorectal cancer 10.3
36 neurotic excoriation 10.3 FLNA COL7A1
37 ehlers-danlos syndrome progeroid type 10.3 B4GALT7 B3GAT3 B3GALT6
38 cleft palate, isolated 10.2
39 otopalatodigital syndrome, type ii 10.2 FLNB FLNA
40 radioulnar synostosis 10.2 B4GALT7 B3GAT3 B3GALT6
41 pyruvate kinase deficiency of red cells 10.2
42 cholangiocarcinoma 10.2
43 liver disease 10.2
44 intrahepatic cholangiocarcinoma 10.2
45 prion disease 10.2
46 neuroblastoma 10.2
47 otopalatodigital syndrome, type i 10.2 FLNB FLNA
48 myopathy, myofibrillar, 5 10.2 FLNB FLNA
49 dystonia 10.2
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2

Graphical network of the top 20 diseases related to Larsen Syndrome:



Diseases related to Larsen Syndrome

Symptoms & Phenotypes for Larsen Syndrome

Human phenotypes related to Larsen Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
4 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
8 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 short nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001799
11 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
12 large joint dislocations 58 31 hallmark (90%) Very frequent (99-80%) HP:0005008
13 accessory carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0004232
14 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
17 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
18 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
21 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
22 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
23 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
24 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
25 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
26 abnormality of the cervical spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003319
27 laryngotracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008755
28 corneal opacity 31 HP:0007957
29 pectus carinatum 31 HP:0000768
30 beaking of vertebral bodies 31 HP:0004568
31 frontal bossing 31 HP:0002007
32 intrauterine growth retardation 31 HP:0001511
33 pectus excavatum 31 HP:0000767
34 atrial septal defect 31 HP:0001631
35 joint laxity 31 HP:0001388
36 talipes equinovarus 31 HP:0001762
37 cleft upper lip 31 HP:0000204
38 hip dislocation 31 HP:0002827
39 ventricular septal defect 31 HP:0001629
40 hypodontia 31 HP:0000668
41 spina bifida occulta 31 HP:0003298
42 elbow dislocation 31 HP:0003042
43 hypoplastic cervical vertebrae 31 HP:0008434
44 tracheomalacia 31 HP:0002779
45 short metacarpal 31 HP:0010049
46 tracheal stenosis 31 HP:0002777
47 aortic aneurysm 31 HP:0004942
48 cervical kyphosis 31 HP:0002947
49 short metatarsal 31 HP:0010743
50 talipes equinovalgus 31 HP:0001772

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge

Skeletal Spine:
scoliosis
spina bifida occulta
cervical kyphosis
spondylolysis
cervical vertebrae hypoplasia
more
Head And Neck Face:
prominent forehead
flat face

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
joint laxity
dislocations of the elbows
dislocations of the wrists
dislocations of the knees
dysplastic epiphyseal centers

Head And Neck Teeth:
hypodontia

Neurologic Central Nervous System:
spinal cord compression
mental retardation

Skeletal Hands:
multiple carpal ossification centers
spatulate thumbs
short metacarpals
cylindric fingers
supernumerary carpal bones

Skin Nails Hair Nails:
short nails

Growth Height:
short stature (final adult height less than 152cm)

Head And Neck Eyes:
hypertelorism
anterior corneal lens opacities

Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
aortic dilatation

Skeletal Feet:
talipes equinovarus
talipes equinovalgus
short metatarsals
supernumerary tarsal bones
delayed coalescence of calcaneal ossification centers

Respiratory Airways:
tracheomalacia
tracheal stenosis
bronchomalacia

Skeletal Skull:
shallow orbits
flattened frontal bone
small skull base

Head And Neck Ears:
hearing loss, conductive
malformations of the auditory ossicles

Growth Other:
prenatal growth deficiency

Skeletal Pelvis:
dislocation of the hip

Clinical features from OMIM:

150250

MGI Mouse Phenotypes related to Larsen Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.91 BPNT2 CHST14 COL7A1 FLNA FLNB SLC26A2
2 mortality/aging MP:0010768 9.77 B3GALT6 B3GAT3 BPNT2 CANT1 CHST14 COL7A1
3 limbs/digits/tail MP:0005371 9.76 BPNT2 CHST14 COL7A1 FLNB SLC26A2 SLC35D1
4 skeleton MP:0005390 9.4 BPNT2 CHST14 CHST3 COL7A1 FLNA FLNB

Drugs & Therapeutics for Larsen Syndrome

Drugs for Larsen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Etomidate Approved Phase 4 33125-97-2 36339 667484
4 Anesthetics, Local Phase 4
5 Sodium Channel Blockers Phase 4
6 Hypnotics and Sedatives Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Anesthetics, Intravenous Phase 4
10
Histamine Approved, Investigational Phase 3 51-45-6 774
11
Ketotifen Approved Phase 3 34580-13-7, 34580-14-8 3827
12
Ketamine Approved, Vet_approved Phase 2, Phase 3 6740-88-1 3821
13
Dexmedetomidine Approved, Vet_approved Phase 2, Phase 3 113775-47-6 5311068 68602
14 Mitogens Phase 2, Phase 3
15 Analgesics Phase 2, Phase 3
16 Anti-Allergic Agents Phase 3
17 Histamine H1 Antagonists Phase 3
18 Histamine Antagonists Phase 3
19 Dermatologic Agents Phase 3
20
Histamine Phosphate Phase 3 51-74-1 65513
21 Neurotransmitter Agents Phase 2, Phase 3
22 Excitatory Amino Acid Antagonists Phase 2, Phase 3
23 Anesthetics, Dissociative Phase 2, Phase 3
24 Pharmaceutical Solutions Phase 2, Phase 3
25
Midazolam Approved, Illicit 59467-70-8 4192
26
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
27
Nitrous oxide Approved, Vet_approved 10024-97-2 948
28
tannic acid Approved 1401-55-4
29
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
30
Ropivacaine Approved 84057-95-4 71273 175805
31
Methoxyflurane Approved, Investigational, Vet_approved 76-38-0 4116
32 Anti-Anxiety Agents
33 Psychotropic Drugs
34 GABA Modulators
35 Tea
36 Analgesics, Non-Narcotic
37 Anti-Inflammatory Agents
38 Dexketoprofen trometamol
39 Antirheumatic Agents
40 Anti-Inflammatory Agents, Non-Steroidal
41 Calamus
42 Anesthetics
43 Anesthetics, General
44 Anesthetics, Inhalation
45 Ether

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 Ketamine-propofol Versus Ketamine Alone for Procedural Sedation in Adults : a Blinded, Randomized Controlled Trial Completed NCT01544725 Phase 4 Procedural sedation with ketamine-propofol combination;Procedural sedation with ketamine alone
2 A Randomized, Prospective Comparison of Stainless Steel and Bioabsorbable Screw Fixation of Lisfranc Foot Injuries Completed NCT00985023 Phase 4
3 Dual-mobility vs. Single-bearing Components in THA at "High Risk" for Prosthetic Dislocation Recruiting NCT04092634 Phase 4
4 Intra-articular Lidocaine vs Procedural Sedation for Anterior Shoulder Dislocations Recruiting NCT03625076 Phase 4 Intra-articular Lidocaine;Procedural Sedation with etomidate or propofol
5 Target-controlled Infusion With Propofol in the Emergency Department : a Prospective Study on 45 Adult Patients Recruiting NCT03783494 Phase 4 Target control infusion with propofol
6 Posterior Compression - Distraction Reduction (CDR) Technique in the Treatment of Basilar Invagination Associated With Atlantoaxial Dislocation Unknown status NCT02463630 Phase 3
7 A Randomized Evaluation of Immobilization in External Rotation in the Management of Acute Anterior Dislocations of the Shoulder Completed NCT00196560 Phase 3
8 PRP Treatment for Medial Retinaculum Tear - Randomized-Double-Blind-Placebo Control Trail Completed NCT00743873 Phase 2, Phase 3 placebo
9 Does Immobilization of the Shoulder in External Rotation Reduce the Recurrence Rate of Shoulder Dislocation? Completed NCT00202735 Phase 2, Phase 3
10 PrEvention of Posttraumatic Joint contractuRes With Ketotifen 2 Recruiting NCT03582176 Phase 3 Lactose Placebo;Ketotifen Fumarate 2mg;Ketotifen Fumarate 5mg
11 Intranasal Dexmedetomidine Plus Ketamine for Procedural Sedation in Children: an Adaptive Randomized Controlled Non-inferiority Multicenter Trial Recruiting NCT04195256 Phase 2, Phase 3 IN Ketodex (D4K2);IN Ketodex (D3K3);IN Ketodex (D2K4);IV Ketamine
12 A Prospective Study of the Effect of Treatment of First Time Traumatic Shoulder Anterior Dislocation by Immobilization in External Rotation on the Incidence of Recurrent Dislocation Unknown status NCT01648335 Phase 2
13 Effect of California Tri-pull Taping Method on Shoulder Subluxation, Pain, Active Range of Motion and Upper Limb Functional Recovery After Stroke - A Pre Test Post Test Design Completed NCT02399904 Phase 1
14 Efficacy of California Tri-pull Taping Method in the Treatment of Post Stroke Shoulder Subluxation- A Randomized Clinical Trial. Completed NCT02192476 Phase 1
15 A Randomized, Prospective Trial Comparing Reconstruction Of Acute Coracoclavicular Ligament Disruption With and Without Tendon Graft Unknown status NCT03060564
16 Diagnostic Accuracy of Bedside Point of Care Ulrasound (POCUS) in the Management of the Shoulder Dislocations Unknown status NCT02469818
17 Acromio-clavicular Joint Dislocation Type III. Conservative Treatment Compared to Surgical Management With 3.5mm Clavicle Hook Plate. A Prospective Randomized Study Unknown status NCT01110304
18 RESTRICTED VS. FREE KNEE RANGE OF MOTION FOR PRIMARY TRAUMATIC PATELLAR DISLOCATION: A PROSPECTIVE RANDOMIZED STUDY Unknown status NCT01344915
19 Comparing FARES Method With SPASO Method for Reduction of Anterior Shoulder Dislocation: a Prospective Randomized Trial Unknown status NCT01979237
20 Incidence of Recall After Procedural Sedation With Propofol in the Emergency Department Unknown status NCT02200744
21 Case Series to Evaluate Clinical Outcome of Coracoclavicular Ligament Repair Using Autogenous Gracilis Tendon in Endobutton System. Unknown status NCT01759147
22 Medial Patellofemoral Ligament (MPFL) Reconstruction With or Without Tibial Tubercle Transfer for Recurrent Patellar Instability Unknown status NCT02267564
23 A Randomized Multi-Centre Controlled Trial of Large Diameter (36/40 mm) Versus Conventional Diameter (32 mm) Femoral Heads for the Prevention of Post Revision Arthroplasty Dislocation Unknown status NCT00175500
24 First Time Anterior Glenohumeral Joint Dislocation With a Bankart Lesion in Young Patients: Which Type of Immobilization Should be Chosen? A Prospective Randomized Study Unknown status NCT01111500
25 Patients Education of a Self-reduction Technique for Anterior Dislocation of Shoulder Unknown status NCT02787395
26 Knee Dislocation - Clinical Evaluation of the Use of Hinged External Fixator After Ligament Reconstruction. Randomized Prospective Study. Unknown status NCT02290197
27 Clinical Outcomes Following Patellar Dislocation in Young Athletes Unknown status NCT03040232
28 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Unknown status NCT02900482
29 Posterior Compression Distraction Reduction Technique System in the Treatment of BI-AAD Unknown status NCT03070743
30 Propofol Target-controlled Infusion Versus Usual Care for the Sedation of Adult Patients With Acute Shoulder Dislocation in the Emergency Department Unknown status NCT03442803
31 Pre-drilling Pilot Holes for Self-drilling Schanz Pins: Does it Reduce the Incidence of Pin Tract Infection and Pin Loosening? Unknown status NCT01046747
32 US Guided Interscalene Block Compared With Sedation for Shoulder Dislocation Reduction in the ER Unknown status NCT03041506 Lidocaine;Midazolam;Ketamine
33 Prospective Series of Acute Acromioclavicular Dislocations Grade III+. Arthroscopic Fixation With Tightrope (R). Completed NCT01274884
34 Operative or Conservative Treatment of Acute Acromioclavicular Joint Dislocation Rockwood Grade III and V - a Prospective Randomized Study Completed NCT01725997
35 Multi-Center Trial to Evaluate an Internal Joint Stabilizer - Elbow ("IJS-E") Completed NCT01944670
36 Follow-up Study After Arthroscopic Bankart Repair Using MG-1 for Dislocation of Shoulder Completed NCT02228226
37 Open Clinical Trial of Arthroscopic Bankart Repair Using MG-1 for Dislocation of the Shoulder Completed NCT01528319
38 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
39 Reconstruction of the Medial Patellofemoral Ligament - A Randomised Controlled Trial Comparing Two Surgery Technics Completed NCT02180685
40 Evaluation of Effects of Clavicular Hook Plate on Subacromial Space Completed NCT01205763
41 Fixation of Thoracic Epidural Catheters Influencing Catheter-related Infections and Dislocation Completed NCT01402778
42 Management of Acute Dislocation of Emergency in the University Hospital of Strasbourg Shoulder: Retrospective Evaluation of Practices and Proposal of a Clinical Path Completed NCT03154957
43 A Prospective, Randomized Study of Operative and Nonoperative Treatment for Primary Traumatic Patellar Dislocation in Young Adults With a Median 7-Year Follow-Up Completed NCT00551668
44 Predictive Factors for the Development of Osteonecrosis After the Treatment of the Developmental Dislocated Hip. A Comparison of Early Open Reduction Versus Late Open Reduction With Combined Pemberton and Femoral Osteotomies Completed NCT01133938
45 Elastic Stable Intramedullary Nailing of Dislocated Clavicle Fractures in Children and Adolescents: Lessons Learned From the First 20 Patients Completed NCT01325129
46 Return to Play Criteria After Shoulder Dislocation in Upper Limb Athletes: Critical Analysis Between the Habits of Medical Professionals and the Literature Completed NCT04387188
47 Immobilization in External Rotation After First Time Anterior Shoulder Dislocation: A Prospective Randomized Study Completed NCT00707018
48 Dual Mobility Cup in Total Hip Arthroplasty Preventing Dislocation in Patients at Risk Completed NCT01644227
49 The Second Hospital of Qinhuangdao, Qinhuangdao, Hebei, 066600, China Completed NCT01479738
50 The Need for Supine Position Advise During Sleep in the First 8 Week After a Total Hip Replacement to Prevent Hip Dislocation Completed NCT02107248

Search NIH Clinical Center for Larsen Syndrome

Cochrane evidence based reviews: joint dislocations

Genetic Tests for Larsen Syndrome

Genetic tests related to Larsen Syndrome:

# Genetic test Affiliating Genes
1 Larsen Syndrome, Dominant Type 29 FLNB
2 Larsen Syndrome 29

Anatomical Context for Larsen Syndrome

MalaCards organs/tissues related to Larsen Syndrome:

40
Bone, Spinal Cord, Eye, Heart, Kidney, Testes, Brain

Publications for Larsen Syndrome

Articles related to Larsen Syndrome:

(show top 50) (show all 156)
# Title Authors PMID Year
1
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 61 56 6 54
16801345 2007
2
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 61 6 56
14991055 2004
3
FLNB Disorders 61 6
20301736 2008
4
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. 61 56
12725593 2003
5
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism. 61 56
11045584 2000
6
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. 56 61
10735637 2000
7
Cervical kyphosis in patients who have Larsen syndrome. 56 61
8609132 1996
8
Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. 61 56
7485161 1995
9
A case of Larsen syndrome with severe cervical malformations. 56 61
7917129 1994
10
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. 61 56
8213905 1993
11
Mixed hearing loss in Larsen syndrome. 56 61
3378369 1988
12
Oral and craniofacial morphology of a patient with Larsen syndrome. 61 56
3793859 1986
13
Separating Larsen syndrome from the "arthrogryposis basket". 61 56
7328098 1981
14
The Larsen syndrome and glial proliferation in the brain. 61 56
899784 1977
15
Larsen's syndrome. Report of three cases in the one family, mother and two offspring. 56
735785 1978
16
Larsen's syndrome;. 56
1112073 1975
17
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. 56
5539773 1971
18
Autosomal dominant inheritance in Larsen's syndrome. 56
5116594 1971
19
Multiple congenital dislocations associated with characteristic facial abnormality. 56
14779259 1950
20
A report on four cases of congenital genu recurvatum occurring in one family. 56
20247238 1947
21
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. 61 54
17360453 2007
22
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. 54 61
16715218 2006
23
Mutations responsible for Larsen syndrome cluster in the FLNB protein. 61 54
16648377 2006
24
Mutations in FLNB cause boomerang dysplasia. 61 54
15994868 2005
25
Knee arthrodesis for a congenital luxation with Larsen syndrome. 61
32487529 2020
26
A 360-Degree Surgical Approach for Correction of Cervical Kyphosis and Atlantoaxial Dislocation in the Case of Larsen Syndrome. 61
32140028 2020
27
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019
28
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 61
31356505 2019
29
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children. 61
31393310 2019
30
A case study of atypical Larsen syndrome with absent hallmark joint dislocations. 61
30916490 2019
31
FEVR findings in patients with Loeys-Dietz syndrome type II. 61
30406707 2018
32
Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator. 61
30111500 2018
33
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 61
30170566 2018
34
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 61
29566257 2018
35
Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. 61
29887954 2018
36
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. 61
28639312 2017
37
Otologic manifestations of Larsen syndrome. 61
28964299 2017
38
Filamin B: The next hotspot in skeletal research? 61
28739045 2017
39
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. 61
28145583 2017
40
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 61
28652603 2017
41
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 61
28475863 2017
42
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children. 61
28328560 2017
43
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. 61
27502344 2017
44
Spine malformation complex in 3 diverse syndromic entities: Case reports. 61
27977582 2016
45
Atlantoaxial dislocation adjacent to kyphotic deformity in a case of adult Larsen syndrome. 61
27217658 2016
46
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. 61
27048506 2016
47
Supraglottic airway and caudal epidural for anesthetic management of a child with Larsen syndrome. 61
27275063 2016
48
One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome. 61
28144369 2016
49
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis. 61
26285895 2015
50
Presumed Larsen syndrome in a child: a case with a 12-year follow-up. 61
25536406 2015

Variations for Larsen Syndrome

ClinVar genetic disease variations for Larsen Syndrome:

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNB NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)SNV Pathogenic 6398 rs80356506 3:58062962-58062962 3:58077235-58077235
2 FLNB NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg)SNV Pathogenic 6399 rs80356513 3:58121790-58121790 3:58136063-58136063
3 FLNB NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)SNV Pathogenic 6405 rs80356508 3:58067395-58067395 3:58081668-58081668
4 FLNB NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)SNV Pathogenic 6406 rs80356503 3:58124218-58124218 3:58138491-58138491
5 FLNB NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser)SNV Pathogenic 21278 rs80356509 3:58083638-58083638 3:58097911-58097911
6 FLNB NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu)SNV Pathogenic 21279 rs80356510 3:58083645-58083645 3:58097918-58097918
7 FLNB NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg)SNV Pathogenic 21281 rs80356511 3:58116537-58116537 3:58130810-58130810
8 FLNB NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del)deletion Pathogenic 21283 rs80356512 3:58121745-58121747 3:58136018-58136020
9 FLNB NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp)SNV Pathogenic 21285 rs80356514 3:58121809-58121809 3:58136082-58136082
10 FLNB NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu)SNV Pathogenic 21287 rs80356515 3:58121842-58121842 3:58136115-58136115
11 FLNB NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg)SNV Pathogenic 21292 rs80356516 3:58131722-58131722 3:58145995-58145995
12 FLNB NM_001457.4(FLNB):c.700C>G (p.Leu234Val)SNV Pathogenic 21296 rs80356507 3:58067416-58067416 3:58081689-58081689
13 FLNB NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)SNV Pathogenic 694710 3:58124075-58124075 3:58138348-58138348
14 CHST3 NM_004273.5(CHST3):c.1254_1256GAA[1] (p.Lys419del)short repeat Pathogenic 694680 10:73768042-73768044 10:72008284-72008286
15 FLNB NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)SNV Likely pathogenic 801980 3:58120453-58120453 3:58134726-58134726
16 FLNB NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)SNV Likely pathogenic 522782 rs1553704446 3:58124219-58124219 3:58138492-58138492
17 CHST3 NM_004273.5(CHST3):c.1347C>T (p.Arg449=)SNV Conflicting interpretations of pathogenicity 283598 rs200249458 10:73768136-73768136 10:72008378-72008378
18 CHST3 NM_004273.5(CHST3):c.561G>C (p.Val187=)SNV Conflicting interpretations of pathogenicity 286649 rs147804585 10:73767350-73767350 10:72007592-72007592
19 CHST3 NM_004273.5(CHST3):c.417C>T (p.Ala139=)SNV Conflicting interpretations of pathogenicity 196378 rs144287889 10:73767206-73767206 10:72007448-72007448
20 CHST3 NM_004273.5(CHST3):c.570C>T (p.Asp190=)SNV Conflicting interpretations of pathogenicity 300562 rs367857089 10:73767359-73767359 10:72007601-72007601
21 CHST3 NM_004273.5(CHST3):c.828C>T (p.Arg276=)SNV Conflicting interpretations of pathogenicity 300563 rs140547825 10:73767617-73767617 10:72007859-72007859
22 CHST3 NM_004273.5(CHST3):c.1197C>T (p.Asp399=)SNV Conflicting interpretations of pathogenicity 300566 rs184636110 10:73767986-73767986 10:72008228-72008228
23 CHST3 NM_004273.5(CHST3):c.1251G>C (p.Thr417=)SNV Conflicting interpretations of pathogenicity 300567 rs140411224 10:73768040-73768040 10:72008282-72008282
24 CHST3 NM_004273.5(CHST3):c.886G>C (p.Val296Leu)SNV Uncertain significance 300564 rs762224143 10:73767675-73767675 10:72007917-72007917
25 CHST3 NM_004273.5(CHST3):c.*3131G>ASNV Uncertain significance 300643 rs577353046 10:73771360-73771360 10:72011602-72011602
26 CHST3 NM_004273.5(CHST3):c.*3306A>GSNV Uncertain significance 300646 rs12250549 10:73771535-73771535 10:72011777-72011777
27 CHST3 NM_004273.5(CHST3):c.*3384G>ASNV Uncertain significance 300647 rs886047180 10:73771613-73771613 10:72011855-72011855
28 CHST3 NM_004273.5(CHST3):c.*3565A>GSNV Uncertain significance 300651 rs151095465 10:73771794-73771794 10:72012036-72012036
29 CHST3 NM_004273.5(CHST3):c.*4409C>TSNV Uncertain significance 300669 rs754282055 10:73772638-73772638 10:72012880-72012880
30 CHST3 NM_004273.5(CHST3):c.*4450G>CSNV Uncertain significance 300672 rs183731077 10:73772679-73772679 10:72012921-72012921
31 CHST3 NM_004273.5(CHST3):c.*4495G>ASNV Uncertain significance 300673 rs730721 10:73772724-73772724 10:72012966-72012966
32 CHST3 NM_004273.5(CHST3):c.*4869G>ASNV Uncertain significance 300684 rs773240688 10:73773098-73773098 10:72013340-72013340
33 CHST3 NM_004273.5(CHST3):c.-131G>ASNV Uncertain significance 300552 rs886047158 10:73724429-73724429 10:71964671-71964671
34 CHST3 NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)SNV Uncertain significance 300555 rs199515173 10:73765607-73765607 10:72005849-72005849
35 CHST3 NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)SNV Uncertain significance 300556 rs368468468 10:73767033-73767033 10:72007275-72007275
36 CHST3 NM_004273.5(CHST3):c.306C>T (p.Gly102=)SNV Uncertain significance 300558 rs776007496 10:73767095-73767095 10:72007337-72007337
37 CHST3 NM_004273.5(CHST3):c.543C>T (p.Ala181=)SNV Uncertain significance 300561 rs778478785 10:73767332-73767332 10:72007574-72007574
38 CHST3 NM_004273.5(CHST3):c.*544C>TSNV Uncertain significance 300580 rs886047161 10:73768773-73768773 10:72009015-72009015
39 CHST3 NM_004273.5(CHST3):c.*1053A>TSNV Uncertain significance 300593 rs886047166 10:73769282-73769282 10:72009524-72009524
40 CHST3 NM_004273.5(CHST3):c.*1621C>GSNV Uncertain significance 300616 rs768478124 10:73769850-73769850 10:72010092-72010092
41 CHST3 NM_004273.5(CHST3):c.*1698C>GSNV Uncertain significance 300618 rs377338550 10:73769927-73769927 10:72010169-72010169
42 CHST3 NM_004273.5(CHST3):c.*3245G>ASNV Uncertain significance 300645 rs545967470 10:73771474-73771474 10:72011716-72011716
43 CHST3 NM_004273.5(CHST3):c.*2660C>TSNV Uncertain significance 300635 rs143743853 10:73770889-73770889 10:72011131-72011131
44 CHST3 NM_004273.5(CHST3):c.*4498A>GSNV Uncertain significance 300674 rs552578786 10:73772727-73772727 10:72012969-72012969
45 CHST3 NM_004273.5(CHST3):c.*1399T>CSNV Uncertain significance 300608 rs562405951 10:73769628-73769628 10:72009870-72009870
46 CHST3 NM_004273.5(CHST3):c.*1536G>ASNV Uncertain significance 300614 rs376062544 10:73769765-73769765 10:72010007-72010007
47 CHST3 NM_004273.5(CHST3):c.*3571T>CSNV Uncertain significance 300652 rs575592721 10:73771800-73771800 10:72012042-72012042
48 CHST3 NM_004273.5(CHST3):c.*4049C>ASNV Uncertain significance 300662 rs192320139 10:73772278-73772278 10:72012520-72012520
49 CHST3 NM_004273.5(CHST3):c.-51G>ASNV Uncertain significance 300554 rs202050418 10:73765550-73765550 10:72005792-72005792
50 CHST3 NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)SNV Uncertain significance 300559 rs144885813 10:73767137-73767137 10:72007379-72007379

UniProtKB/Swiss-Prot genetic disease variations for Larsen Syndrome:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 FLNB p.Phe161Cys VAR_033069 rs80356506
2 FLNB p.Gly168Ser VAR_033070 rs80356504
3 FLNB p.Glu227Lys VAR_033075 rs80356508
4 FLNB p.Leu234Val VAR_033076 rs80356507
5 FLNB p.Gly361Ser VAR_033078 rs80356509
6 FLNB p.Gly363Glu VAR_033079 rs80356510
7 FLNB p.Leu1431Arg VAR_033081 rs80356511
8 FLNB p.Gly1586Arg VAR_033083 rs80356513
9 FLNB p.Val1592Asp VAR_033084 rs80356514
10 FLNB p.Pro1603Leu VAR_033085 rs80356515
11 FLNB p.Gly1691Ser VAR_033086 rs80356503
12 FLNB p.Gly1834Arg VAR_033087 rs80356516

Expression for Larsen Syndrome

Search GEO for disease gene expression data for Larsen Syndrome.

Pathways for Larsen Syndrome

Pathways related to Larsen Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510

Pathways related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 XYLT1 TGDS SLC35D1 SLC26A2 GALNS CHST3
2
Show member pathways
12.31 XYLT1 SLC26A2 CHST3 CHST15 CHST14 B4GALT7
3
Show member pathways
11.68 XYLT1 CHST3 CHST15 CHST14 B4GALT7 B3GAT3
4
Show member pathways
11.29 XYLT1 B4GALT7 B3GAT3 B3GALT6

GO Terms for Larsen Syndrome

Cellular components related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.03 XYLT1 SLC35D1 SLC26A2 FLNB CHST3 CHST15
2 Golgi apparatus GO:0005794 9.65 XYLT1 SLC35D1 CHST3 CHST15 CHST14 CANT1
3 Golgi cisterna membrane GO:0032580 9.33 CANT1 B4GALT7 B3GALT6
4 Golgi membrane GO:0000139 9.23 XYLT1 COL7A1 CHST3 CHST15 CHST14 B4GALT7

Biological processes related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 CHST3 CHST14 B4GALT7 B3GAT3
2 glycosaminoglycan biosynthetic process GO:0006024 9.46 XYLT1 B4GALT7 B3GAT3 B3GALT6
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.43 XYLT1 B3GAT3 B3GALT6
4 proteoglycan biosynthetic process GO:0030166 9.4 XYLT1 CANT1
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.32 XYLT1 B3GAT3
6 glycosaminoglycan metabolic process GO:0030203 9.26 XYLT1 B4GALT7 B3GAT3 B3GALT6
7 chondroitin sulfate biosynthetic process GO:0030206 9.02 XYLT1 SLC35D1 CHST3 CHST15 B3GALT6

Molecular functions related to Larsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.5 XYLT1 CHST3 CHST15 CHST14 B4GALT7 B3GAT3
2 galactosyltransferase activity GO:0008378 8.62 B4GALT7 B3GALT6

Sources for Larsen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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