LRSL
MCID: LRS002
MIFTS: 30

Larsen-Like Syndrome (LRSL)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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Aliases & Classifications for Larsen-Like Syndrome

MalaCards integrated aliases for Larsen-Like Syndrome:

Name: Larsen-Like Syndrome 57 19 12 71
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 58 28
Larsen-Like Multiple Joint Dislocation Syndrome 19
Larsen-Like Syndrome, Lethal Type 19
Lrsl 57

Characteristics:


Inheritance:

Isolated cases 57

Prevelance:

Larsen-Like Osseous Dysplasia-Short Stature Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Larsen-Like Osseous Dysplasia-Short Stature Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Larsen-Like Syndrome

Orphanet: 58 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.

MalaCards based summary: Larsen-Like Syndrome, also known as larsen-like osseous dysplasia-short stature syndrome, is related to larsen-like syndrome b3gat3 type and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen-Like Syndrome is LRSL (Larsen-Like Syndrome). Affiliated tissues include bone, tongue and heart, and related phenotypes are scoliosis and skeletal dysplasia

GARD: 19 A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.

More information from OMIM: 608545

Related Diseases for Larsen-Like Syndrome

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



Diseases related to Larsen-Like Syndrome

Symptoms & Phenotypes for Larsen-Like Syndrome

Human phenotypes related to Larsen-Like Syndrome:

58 30 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002650
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
3 hip dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001385
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
5 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
6 reduced bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004349
7 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
8 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
9 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
10 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
11 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
12 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
13 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
14 corneal opacity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007957
15 short nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003196
16 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
17 narrow mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000160
18 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
19 abnormal cardiac septum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001671
20 thin vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000233
21 macrocephaly 30 HP:0000256
22 frontal bossing 30 HP:0002007
23 hypotonia 30 HP:0001252
24 delayed skeletal maturation 30 HP:0002750
25 hypertelorism 30 HP:0000316
26 dental malocclusion 30 HP:0000689
27 brachycephaly 30 HP:0000248
28 prominent forehead 30 HP:0011220
29 abnormality of the metaphysis 58 Very frequent (99-80%)
30 cleft palate 30 HP:0000175
31 flat face 30 HP:0012368
32 low-set ears 30 HP:0000369
33 recurrent otitis media 30 HP:0000403
34 joint laxity 30 HP:0001388
35 talipes equinovarus 30 HP:0001762
36 kyphoscoliosis 30 HP:0002751
37 conductive hearing impairment 30 HP:0000405
38 joint dislocation 30 HP:0001373
39 malar flattening 30 HP:0000272
40 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
41 abnormality of the metacarpal bones 58 Very frequent (99-80%)
42 wide anterior fontanel 30 HP:0000260
43 generalized hypotonia 30 HP:0001290
44 absent nasal bridge 30 HP:0005285
45 radial deviation of the 4th finger 30 HP:0009279
46 bipartite calcaneus 30 HP:0008127

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
brachycephaly
large anterior fontanel

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
flat face

Head And Neck Ears:
low-set ears
conductive hearing loss
recurrent episodes of otitis media

Head And Neck Nose:
absent nasal bridge

Head And Neck Teeth:
malocclusion

Skeletal Feet:
clubfoot
double calcaneal ossification center

Laboratory Abnormalities:
abnormal karyotype in 3 patients involving distal 6p

Neurologic:
hypotonia

Growth Height:
short stature

Head And Neck Mouth:
cleft palate

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
developmental delay

Skeletal:
delayed bone age
joint dislocations
joint laxity (hip, knee, shoulder, wrist, fingers)

Skeletal Hands:
clinodactyly (4th and 5th fingers)
cylindrical fingers

Clinical features from OMIM®:

608545 (Updated 08-Dec-2022)

Drugs & Therapeutics for Larsen-Like Syndrome

Search Clinical Trials, NIH Clinical Center for Larsen-Like Syndrome

Genetic Tests for Larsen-Like Syndrome

Genetic tests related to Larsen-Like Syndrome:

# Genetic test Affiliating Genes
1 Larsen-Like Osseous Dysplasia-Short Stature Syndrome 28

Anatomical Context for Larsen-Like Syndrome

Organs/tissues related to Larsen-Like Syndrome:

MalaCards : Bone, Tongue, Heart, Brain

Publications for Larsen-Like Syndrome

Articles related to Larsen-Like Syndrome:

(show all 13)
# Title Authors PMID Year
1
Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. 62 57
12784294 2003
2
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. 57
1916762 1991
3
(-)-Lariciresinol Isolated from the Roots of Isatis indigotica Fortune ex Lindl. Inhibits Hepatitis B Virus by Regulating Viral Transcription. 62
35630700 2022
4
The exceptionally efficient quorum quenching enzyme LrsL suppresses Pseudomonas aeruginosa biofilm production. 62
36071959 2022
5
Antioxidant efficacy and the upregulation of Nrf2-mediated HO-1 expression by (+)-lariciresinol, a lignan isolated from Rubia philippinensis, through the activation of p38. 62
28378774 2017
6
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. 62
25893793 2015
7
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 62
21763480 2011
8
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. 62
19014058 2008
9
Delineation of two distinct 6p deletion syndromes. 62
10071194 1999
10
Brain dysplasia associated with Larsen-like syndrome. 62
8652025 1996
11
Glaucoma with a Larsen-like syndrome. 62
7749667 1994
12
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 62
1640425 1992
13
A lethal, Larsen-like multiple joint dislocation syndrome. 62
7137228 1982

Variations for Larsen-Like Syndrome

Expression for Larsen-Like Syndrome

Search GEO for disease gene expression data for Larsen-Like Syndrome.

Pathways for Larsen-Like Syndrome

GO Terms for Larsen-Like Syndrome

Sources for Larsen-Like Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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