DCO
MCID: LRW002
MIFTS: 42

Leri Weill Dyschondrosteosis (DCO) malady

Bone diseases, Fetal diseases categories

Summaries for Leri Weill Dyschondrosteosis

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Leri Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to achondroplasia and hypochondroplasia, and has symptoms including restricted joint mobility/joint stiffness/ankylosis, articular/joint pain/arthralgia and epiphyseal anomaly. An important gene associated with Leri Weill Dyschondrosteosis is SHOX (short stature homeobox). Affiliated tissues include bone.

Genetics Home Reference:21 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.

Wikipedia:63 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results... more...

Description from OMIM:46 127300

Aliases & Classifications for Leri Weill Dyschondrosteosis

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42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: 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


Aliases & Descriptions:

leri weill dyschondrosteosis 42
léri-weill dyschondrosteosis 42 20 22 21 48
leri-weill dyschondrosteosis 21 46 44
dyschondrosteosis 42 21
lwd 42 21
dco 42 21
léri-weill syndrome 48
madelung deformity 48


External Ids:

OMIM46 127300
MESH via Orphanet35 C537119
ICD10 via Orphanet26 Q77.8, Q74.0
SNOMED-CT via Orphanet57 17818006, 4530000
UMLS via Orphanet61 C0265309

Related Diseases for Leri Weill Dyschondrosteosis

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Leri Weill Dyschondrosteosis:



Diseases related to leri weill dyschondrosteosis

Clinical Features for Leri Weill Dyschondrosteosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

127300

Clinical synopsis from OMIM:

127300

Symptoms:

48 (show all 41)
  • restricted joint mobility/joint stiffness/ankylosis
  • articular/joint pain/arthralgia
  • epiphyseal anomaly
  • bone pain
  • madelung's deformity
  • wrist/carpal anomalies
  • humeroulnar joint anomaly
  • elbow anomalies(excluding luxation)
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • elbow dislocation
  • genu valgum
  • joint/articular deformation
  • anomalies of spine, vertebrae and pelvis
  • renal disease/nephropathy
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • short hand/brachydactyly
  • mesomelic micromelia
  • short stature/dwarfism/nanism
  • osteoarthritis
  • exostoses
  • patella absent/abnormal (excluding luxation)
  • short limbs/micromelia/brachymelia
  • global upper and lower limbs anomalies
  • scoliosis
  • brachycephaly/flat occiput
  • clinodactyly of fifth finger
  • metacarpal anomalies/archibald's sign
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • depressed nasal bridge
  • autosomal dominant inheritance
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • enlarged diaphysis/diaphyses
  • cone epiphyses/epiphysis
  • metaphyseal anomaly
  • absent/small toenails/anonychia of feet
  • absent/small fingernails/anonychia of hands
  • genu varum
  • broad nose/nasal bridge

Drugs & Therapeutics for Leri Weill Dyschondrosteosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Leri Weill Dyschondrosteosis

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20GeneTests, 22GTR
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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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32MalaCards
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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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Genetic Variations for Leri Weill Dyschondrosteosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Leri Weill Dyschondrosteosis:

62
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346
2SHOXp.Leu132ValVAR_019414
3SHOXp.Arg153LeuVAR_019415

Expression for genes affiliated with Leri Weill Dyschondrosteosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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Biological processes related to Leri Weill Dyschondrosteosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.0FGFR3, SHOX

Molecular functions related to Leri Weill Dyschondrosteosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:0009769.3SHOX, LBX1

Products for genes affiliated with Leri Weill Dyschondrosteosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet