MCID: LRW001
MIFTS: 45

Leri-Weill Dyschondrosteosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Leri-Weill Dyschondrosteosis

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Sources:
49OMIM, 11diseasecard, 23Genetics Home Reference, 47Novoseek, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 49 11 23 47 67
Léri-Weill Dyschondrosteosis 45 22 23 51 24
Dyschondrosteosis 45 22 23
Lwd 45 23 67
 
Dco 45 23
Leri Weill Dyschondrosteosis 45
Léri-Weill Syndrome 51
Leri-Weill Syndrome 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 127300
Orphanet51 240
ICD10 via Orphanet28 Q77.8
MESH via Orphanet37 C537119
UMLS via Orphanet66 C0265309

Summaries for Leri-Weill Dyschondrosteosis

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NIH Rare Diseases:45 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 bones in the forearms and lower 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, elbow abnormalities, scoliosis, high-arched palate, and exostoses. intelligence is not affected by this condition. in around 70 percent of cases, leri weill dyschondrosteosis is caused by mutations in or near one copy of the shox gene in each cell. the cause of the disorder remains unknown in the remaining 30 percent of cases. last updated: 2/23/2010

MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to hypochondroplasia and achondroplasia, 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:23 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:49 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...

UniProtKB/Swiss-Prot:67 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:68 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:

 51 (show all 31)
  • broad nose/nasal bridge
  • depressed nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short limbs/micromelia/brachymelia
  • mesomelic micromelia
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • wrist/carpal anomalies
  • madelung's deformity
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • clinodactyly of fifth finger
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • patella absent/abnormal (excluding luxation)
  • genu varum
  • absent/small fingernails/anonychia of hands
  • absent/small toenails/anonychia of feet
  • exostoses
  • metaphyseal anomaly
  • epiphyseal anomaly
  • cone epiphyses/epiphysis
  • enlarged diaphysis/diaphyses
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • genu valgum
  • elbow dislocation

HPO human phenotypes related to Leri-Weill Dyschondrosteosis:

(show all 62)
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 autosomal dominant inheritance HP:0000006
40 high palate HP:0000218
41 abnormality of the carpal bones HP:0001191
42 short toe HP:0001831
43 abnormality of the metatarsal bones HP:0001832
44 scoliosis HP:0002650
45 coxa valga HP:0002673
46 multiple exostoses HP:0002762
47 tibial bowing HP:0002982
48 hypoplasia of the radius HP:0002984
49 radial bowing HP:0002986
50 limited elbow movement HP:0002996
51 hypoplasia of the ulna HP:0003022
52 mesomelia HP:0003027
53 fibular hypoplasia HP:0003038
54 abnormality of the humerus HP:0003063
55 madelung deformity HP:0003067
56 increased carrying angle HP:0003102
57 skeletal muscle hypertrophy HP:0003712
58 short tibia HP:0005736
59 limited wrist movement HP:0006248
60 dorsal subluxation of ulna HP:0006459
61 disproportionate short-limb short stature HP:0008873
62 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 Dyschondrosteosis22 SHOX
2 Leri Weill Dyschondrosteosis24

Anatomical Context for Leri-Weill Dyschondrosteosis

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MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

33
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 29)
idTitleAuthorsYear
1
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. (26512353)
2015
2
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
3
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). (21147883)
2011
4
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (21068148)
2011
5
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (20683993)
2010
6
Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. (19400538)
2009
7
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
8
Neuraxial anesthesia in a parturient with Leri-Weill dyschondrosteosis. (17451934)
2007
9
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (17091221)
2007
10
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)
2006
11
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
12
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
13
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)
2005
14
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. (15902898)
2005
15
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)
2005
16
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)
2004
17
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. (15197587)
2004
18
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. (12694264)
2003
19
A rare cause of short stature: Leri Weill dyschondrosteosis. (12872816)
2003
20
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
21
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. (12070265)
2002
22
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)
2001
23
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. (11503163)
2001
24
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. (11509862)
2001
25
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (10905666)
2000
26
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
27
X/Y translocation in a family with Leri-Weill dyschondrosteosis. (10543407)
1999
28
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)
1999
29
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:

67
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346
2SHOXp.Leu132ValVAR_019414
3SHOXp.Arg153LeuVAR_019415

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 variantPathogenicrs137852558GRCh37Chr X, 595379: 595379
12SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)single nucleotide variantPathogenicrs137852559GRCh37Chr X, 605369: 605369
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

Molecular functions related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, sequence-specific DNA bindingGO:00037008.9LBX1, SHOX, SRY

Sources for Leri-Weill Dyschondrosteosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet