MCID: LRW001
MIFTS: 42

Leri-Weill Dyschondrosteosis malady

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

Aliases & Classifications for Leri-Weill Dyschondrosteosis

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Sources:
50OMIM, 23GeneTests, 24Genetics Home Reference, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 46NIH Rare Diseases, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 50 23 24 68 12 48
Léri-Weill Dyschondrosteosis 46 24 52 25
Dyschondrosteosis 46 23 24
Lwd 46 24 68
Dco 46 24
 
Leri Weill Dyschondrosteosis 46
Léri-Weill Syndrome 52
Leri-Weill Syndrome 23
Madelung Deformity 52

Characteristics:

Orphanet epidemiological data:

52
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
madelung deformity:
Inheritance: Multigenic/multifactorial; Age of onset: Childhood

HPO:

62
leri-weill dyschondrosteosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 127300
ICD10 via Orphanet29 Q77.8, Q74.0
MESH via Orphanet38 C537119
UMLS via Orphanet67 C0265309, C0152441

Summaries for Leri-Weill Dyschondrosteosis

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NIH Rare Diseases:46 Leri weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called madelung deformity. short stature is present from birth due to shortening of the long bones in the legs. madelung deformity typically develops during mid-to-late childhood and may progress during puberty. people with this condition often experience pain in their wrists or arms. the severity of leri weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. other features of leri weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. intelligence is not affected by this condition. most cases of leri weill dyschondrosteosis are caused by mutations in or near the shox gene. the cause of the disorder remains unknown in those cases not related to the shox gene. leri weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.  last updated: 3/30/2016

MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to langer mesomelic dysplasia and hypochondroplasia, and has symptoms including abnormality of the metaphyses, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone and skeletal muscle.

Genetics Home Reference:24 Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.

OMIM:50 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...

UniProtKB/Swiss-Prot:68 Leri-Weill dyschondrosteosis: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.

Wikipedia:69 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results... more...

Related Diseases for Leri-Weill Dyschondrosteosis

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Graphical network of diseases related to Leri-Weill Dyschondrosteosis:



Diseases related to leri-weill dyschondrosteosis

Symptoms for Leri-Weill Dyschondrosteosis

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Symptoms by clinical synopsis from OMIM:

127300

Clinical features from OMIM:

127300

Symptoms:

 52 (show all 50)
  • wide nasal bridge
  • abnormality of the metaphyses
  • brachydactyly syndrome
  • abnormality of the carpal bones
  • joint stiffness
  • hypoplastic fingernail
  • abnormality of pelvic girdle bone morphology
  • abnormality of calvarial morphology
  • abnormality of the radius
  • abnormality of the femur
  • genu valgum
  • genu varum
  • tibial bowing
  • micromelia
  • hypoplasia of the radius
  • radial bowing
  • abnormality of the tibia
  • abnormality of the ulna
  • hypoplasia of the ulna
  • mesomelia
  • ulnar bowing
  • elbow dislocation
  • abnormality of the humerus
  • madelung deformity
  • abnormality of the hip bone
  • clinodactyly of the 5th finger
  • diaphyseal thickening
  • depressed nasal bridge
  • short tibia
  • abnormality of epiphysis morphology
  • limited wrist movement
  • patellar aplasia
  • dorsal subluxation of ulna
  • disproportionate short-limb short stature
  • cone-shaped epiphysis
  • aplastic/hypoplastic toenail
  • exostoses
  • nephropathy
  • abnormality of the vertebral column
  • joint dislocation
  • scoliosis
  • bone pain
  • osteoarthritis
  • multiple exostoses
  • arthralgia
  • limited elbow movement
  • long ulna
  • type c brachydactyly
  • abnormality of the elbow
  • abnormality of the humeroulnar joint

HPO human phenotypes related to Leri-Weill Dyschondrosteosis:

(show all 61)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 limitation of joint mobility hallmark (90%) HP:0001376
5 anonychia hallmark (90%) HP:0001798
6 bone pain hallmark (90%) HP:0002653
7 abnormality of the femur hallmark (90%) HP:0002823
8 arthralgia hallmark (90%) HP:0002829
9 genu varum hallmark (90%) HP:0002970
10 micromelia hallmark (90%) HP:0002983
11 abnormality of the tibia hallmark (90%) HP:0002992
12 abnormality of the ulna hallmark (90%) HP:0002997
13 abnormality of the humerus hallmark (90%) HP:0003063
14 madelung deformity hallmark (90%) HP:0003067
15 abnormality of the hip bone hallmark (90%) HP:0003272
16 clinodactyly of the 5th finger hallmark (90%) HP:0004209
17 short stature hallmark (90%) HP:0004322
18 depressed nasal bridge hallmark (90%) HP:0005280
19 patellar aplasia hallmark (90%) HP:0006443
20 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
21 cone-shaped epiphysis hallmark (90%) HP:0010579
22 aplastic/hypoplastic toenail hallmark (90%) HP:0010624
23 abnormality of the humeroulnar joint hallmark (90%) HP:0100745
24 exostoses hallmark (90%) HP:0100777
25 abnormality of calvarial morphology typical (50%) HP:0002648
26 scoliosis typical (50%) HP:0002650
27 osteoarthritis typical (50%) HP:0002758
28 genu valgum typical (50%) HP:0002857
29 micromelia typical (50%) HP:0002983
30 elbow dislocation typical (50%) HP:0003042
31 short stature typical (50%) HP:0004322
32 patellar aplasia typical (50%) HP:0006443
33 exostoses typical (50%) HP:0100777
34 nephropathy occasional (7.5%) HP:0000112
35 brachydactyly syndrome occasional (7.5%) HP:0001156
36 abnormality of the femur occasional (7.5%) HP:0002823
37 micromelia occasional (7.5%) HP:0002983
38 abnormality of the tibia occasional (7.5%) HP:0002992
39 high palate HP:0000218
40 abnormality of the carpal bones HP:0001191
41 short toe HP:0001831
42 abnormality of the metatarsal bones HP:0001832
43 scoliosis HP:0002650
44 coxa valga HP:0002673
45 multiple exostoses HP:0002762
46 tibial bowing HP:0002982
47 hypoplasia of the radius HP:0002984
48 radial bowing HP:0002986
49 limited elbow movement HP:0002996
50 hypoplasia of the ulna HP:0003022
51 mesomelia HP:0003027
52 fibular hypoplasia HP:0003038
53 abnormality of the humerus HP:0003063
54 madelung deformity HP:0003067
55 increased carrying angle HP:0003102
56 skeletal muscle hypertrophy HP:0003712
57 short tibia HP:0005736
58 limited wrist movement HP:0006248
59 dorsal subluxation of ulna HP:0006459
60 disproportionate short-limb short stature HP:0008873
61 short 4th metacarpal HP:0010044

Drugs & Therapeutics for Leri-Weill Dyschondrosteosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Leri-Weill Dyschondrosteosis

Genetic Tests for Leri-Weill Dyschondrosteosis

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Genetic tests related to Leri-Weill Dyschondrosteosis:

id Genetic test Affiliating Genes
1 Leri Weill Dyschondrosteosis25
2 Leri-Weill Dyschondrosteosis (lwd)25
3 Leri-Weill Dyschondrosteosis23 SHOX

Anatomical Context for Leri-Weill Dyschondrosteosis

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MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

34
Bone, Skeletal muscle

Animal Models for Leri-Weill Dyschondrosteosis or affiliated genes

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Publications for Leri-Weill Dyschondrosteosis

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Articles related to Leri-Weill Dyschondrosteosis:

(show all 31)
idTitleAuthorsYear
1
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. (26984564)
2016
2
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. (26698168)
2016
3
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. (26512353)
2015
4
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
5
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (21068148)
2011
6
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). (21147883)
2011
7
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (20683993)
2010
8
Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. (19400538)
2009
9
Neuraxial anesthesia in a parturient with Leri-Weill dyschondrosteosis. (17451934)
2007
10
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (17091221)
2007
11
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
12
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)
2006
13
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. (16007631)
2005
14
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
15
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)
2005
16
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)
2005
17
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. (15902898)
2005
18
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)
2004
19
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. (15197587)
2004
20
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. (12694264)
2003
21
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
22
A rare cause of short stature: Leri Weill dyschondrosteosis. (12872816)
2003
23
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. (12070265)
2002
24
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)
2001
25
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. (11503163)
2001
26
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. (11509862)
2001
27
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (10905666)
2000
28
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
29
X/Y translocation in a family with Leri-Weill dyschondrosteosis. (10543407)
1999
30
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)
1999
31
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (9590293)
1998

Variations for Leri-Weill Dyschondrosteosis

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UniProtKB/Swiss-Prot genetic disease variations for Leri-Weill Dyschondrosteosis:

68
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346rs137852556
2SHOXp.Leu132ValVAR_019414rs137852554
3SHOXp.Arg153LeuVAR_019415rs137852555

Clinvar genetic disease variations for Leri-Weill Dyschondrosteosis:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)single nucleotide variantPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXNM_000451.3(SHOX): c.509C> A (p.Ala170Asp)single nucleotide variantPathogenicrs397514462GRCh37Chr X, 601578: 601578
3SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
4SHOXNM_000451.3(SHOX): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs137852553GRCh37Chr X, 601786: 601786
5SHOXSHOX, DELdeletionPathogenic
6SHOXNM_000451.3(SHOX): c.394C> G (p.Leu132Val)single nucleotide variantPathogenicrs137852554GRCh37Chr X, 595469: 595469
7SHOXNM_000451.3(SHOX): c.458G> T (p.Arg153Leu)single nucleotide variantPathogenicrs137852555GRCh37Chr X, 595533: 595533
8SHOXSHOX, 1-BP DEL, 1272GdeletionPathogenic
9SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)single nucleotide variantPathogenicrs137852556GRCh37Chr X, 601586: 601586
10SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh37Chr X, 601571: 601571
11SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)single nucleotide variantPathogenicrs137852558GRCh38Chr X, 634644: 634644
12SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)single nucleotide variantPathogenicrs137852559GRCh38Chr X, 644634: 644634
13SHOXSHOX, 1.1-MB DELdeletionPathogenic

Expression for genes affiliated with Leri-Weill Dyschondrosteosis

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Search GEO for disease gene expression data for Leri-Weill Dyschondrosteosis.

Pathways for genes affiliated with Leri-Weill Dyschondrosteosis

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GO Terms for genes affiliated with Leri-Weill Dyschondrosteosis

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Biological processes related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.2FGFR3, SHOX

Sources for Leri-Weill Dyschondrosteosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet