DCO
MCID: LRW002
MIFTS: 43

Leri Weill Dyschondrosteosis (DCO) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Leri Weill Dyschondrosteosis

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NIH Rare Diseases:42 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 short stature and langer mesomelic dysplasia, and has symptoms including broad nose/nasal bridge, depressed nasal bridge and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. An important gene associated with Leri Weill Dyschondrosteosis is SHOX (short stature homeobox). Affiliated tissues include bone.

Genetics Home Reference:21 LĂ©ri-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 LĂ©ri-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.

Wikipedia:65 L more...

Description from OMIM:46 127300

Aliases & Classifications for Leri Weill Dyschondrosteosis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Leri Weill Dyschondrosteosis, Aliases & Descriptions:

Name: Leri Weill Dyschondrosteosis 42
LĂ©ri-Weill Dyschondrosteosis 42 20 22 21 48
Leri-Weill Dyschondrosteosis 21 46 44
Dyschondrosteosis 42 21
 
Lwd 42 21
Dco 42 21
LĂ©ri-Weill Syndrome 48
Madelung Deformity 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal
madelung deformity:
Inheritance: Multigenic/multifactorial; Age of onset: Childhood


External Ids:

OMIM46 127300
MESH via Orphanet35 C537119
ICD10 via Orphanet26 Q77.8, Q74.0
UMLS via Orphanet63 C0265309, C0152441

Related Diseases for Leri Weill Dyschondrosteosis

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Diseases related to Leri Weill Dyschondrosteosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1short stature10.9
2langer mesomelic dysplasia10.8
3turner syndrome10.7
4hodgkin's lymphoma10.5
5achondroplasia10.5
6neurofibromatosis10.5
7hypochondroplasia10.5
8dyschondrosteosis nephritis10.3
9madelung deformity, bilateral10.3
10madelung deformity, unilateral10.3
11exostoses, multiple, type 110.1
12trigger thumb10.1
13shox-related haploinsufficiency disorders10.1

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:

48 (show all 41)
  • 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
  • elbow anomalies(excluding luxation)
  • humeroulnar joint anomaly
  • bone pain
  • articular/joint pain/arthralgia
  • joint/articular deformation
  • anomalies of spine, vertebrae and pelvis
  • scoliosis
  • global upper and lower limbs anomalies
  • osteoarthritis
  • renal disease/nephropathy

HPO human phenotypes related to Leri Weill Dyschondrosteosis:

(show all 67)
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 abnormality of the femur hallmark (90%) HP:0002823
7 genu varum hallmark (90%) HP:0002970
8 micromelia hallmark (90%) HP:0002983
9 abnormality of the tibia hallmark (90%) HP:0002992
10 abnormality of the ulna hallmark (90%) HP:0002997
11 abnormality of the humerus hallmark (90%) HP:0003063
12 madelung deformity hallmark (90%) HP:0003067
13 abnormality of the hip bone hallmark (90%) HP:0003272
14 clinodactyly of the 5th finger hallmark (90%) HP:0004209
15 short stature hallmark (90%) HP:0004322
16 depressed nasal bridge hallmark (90%) HP:0005280
17 patellar aplasia hallmark (90%) HP:0006443
18 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
19 cone-shaped epiphysis hallmark (90%) HP:0010579
20 aplastic/hypoplastic toenail hallmark (90%) HP:0010624
21 exostoses hallmark (90%) HP:0100777
22 limitation of joint mobility hallmark (90%) HP:0001376
23 bone pain hallmark (90%) HP:0002653
24 arthralgia hallmark (90%) HP:0002829
25 abnormality of the ulna hallmark (90%) HP:0002997
26 madelung deformity hallmark (90%) HP:0003067
27 abnormality of the epiphyses hallmark (90%) HP:0005930
28 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
29 abnormality of the humeroulnar joint hallmark (90%) HP:0100745
30 abnormality of calvarial morphology typical (50%) HP:0002648
31 genu valgum typical (50%) HP:0002857
32 elbow dislocation typical (50%) HP:0003042
33 scoliosis typical (50%) HP:0002650
34 osteoarthritis typical (50%) HP:0002758
35 micromelia typical (50%) HP:0002983
36 short stature typical (50%) HP:0004322
37 patellar aplasia typical (50%) HP:0006443
38 exostoses typical (50%) HP:0100777
39 nephropathy occasional (7.5%) HP:0000112
40 brachydactyly syndrome occasional (7.5%) HP:0001156
41 abnormality of the femur occasional (7.5%) HP:0002823
42 micromelia occasional (7.5%) HP:0002983
43 abnormality of the tibia occasional (7.5%) HP:0002992
44 autosomal dominant inheritance HP:0000006
45 high palate HP:0000218
46 abnormality of the carpal bones HP:0001191
47 short toe HP:0001831
48 abnormality of the metatarsal bones HP:0001832
49 scoliosis HP:0002650
50 coxa valga HP:0002673
51 multiple exostoses HP:0002762
52 tibial bowing HP:0002982
53 hypoplasia of the radius HP:0002984
54 radial bowing HP:0002986
55 limited elbow movement HP:0002996
56 hypoplasia of the ulna HP:0003022
57 mesomelia HP:0003027
58 fibular hypoplasia HP:0003038
59 abnormality of the humerus HP:0003063
60 madelung deformity HP:0003067
61 increased carrying angle HP:0003102
62 muscle hypertrophy HP:0003712
63 short tibia HP:0005736
64 limited wrist movement HP:0006248
65 dorsal subluxation of ulna HP:0006459
66 disproportionate short-limb short stature HP:0008873
67 short 4th metacarpal HP:0010044

Drugs & Therapeutics for Leri Weill Dyschondrosteosis

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Drug clinical trials:

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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 Dyschondrosteosis20 SHOX
2 Leri Weill Dyschondrosteosis22

Anatomical Context for Leri Weill Dyschondrosteosis

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MalaCards organs/tissues related to Leri Weill Dyschondrosteosis:

32
Bone

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

64
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:

6
id Gene Name 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
3SHOXNM_000451.3(SHOX): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs137852553GRCh37Chr X, 601786: 601786
4SHOXNM_000451.3(SHOX): c.394C> G (p.Leu132Val)single nucleotide variantPathogenicrs137852554GRCh37Chr X, 595469: 595469
5SHOXNM_000451.3(SHOX): c.458G> T (p.Arg153Leu)single nucleotide variantPathogenicrs137852555GRCh37Chr X, 595533: 595533
6SHOXSHOX, 1-BP DEL, 1272GdeletionPathogenic
7SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)single nucleotide variantPathogenicrs137852556GRCh37Chr X, 601586: 601586
8SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh38Chr X, 640836: 640836
9SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)single nucleotide variantPathogenicrs137852558GRCh37Chr X, 595379: 595379
10SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)single nucleotide variantPathogenicrs137852559GRCh38Chr X, 644634: 644634

Expression for genes affiliated with Leri Weill Dyschondrosteosis

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Expression patterns in normal tissues for genes affiliated with Leri Weill Dyschondrosteosis

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Pathways for genes affiliated with Leri Weill Dyschondrosteosis

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Compounds for genes affiliated with Leri Weill Dyschondrosteosis

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GO Terms for genes affiliated with Leri Weill Dyschondrosteosis

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Products for genes affiliated with Leri Weill Dyschondrosteosis

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  • Antibodies
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  • Lysates

Sources for Leri Weill Dyschondrosteosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet