MCID: LNG040
MIFTS: 31

Langer Mesomelic Dysplasia malady

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

Aliases & Classifications for Langer Mesomelic Dysplasia

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 49 11 45 23 47 51 67 24
Lmd 23 67
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 23
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 45
 
Mesomelic Dwarfism, Langer Type 51
Dyschondrosteosis, Homozygous 45
Dyschondrosteosis Homozygous 23
Langer Mesomelic Dwarfism 23

Characteristics:

Orphanet epidemiological data:

51
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 249700
Orphanet51 2632
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537267
UMLS via Orphanet66 C0432230
MedGen34 C0432230

Summaries for Langer Mesomelic Dysplasia

About this section
Genetics Home Reference:23 Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).

MalaCards based summary: Langer Mesomelic Dysplasia, also known as lmd, is related to leri-weill dyschondrosteosis and langer mesomelic dwarfism, and has symptoms including ulnar deviation of finger, abnormality of epiphysis morphology and short stature. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone, breast and lung.

UniProtKB/Swiss-Prot:67 Langer mesomelic dysplasia: Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.

OMIM:49 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

Wikipedia:68 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Related Diseases for Langer Mesomelic Dysplasia

About this section

Diseases related to Langer Mesomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leri-weill dyschondrosteosis30.5GYPB, SHOX
2langer mesomelic dwarfism12.4
3dwarfism10.4
4turner syndrome10.1
5langer mesomelic dysplasia9.5GYPB, SHOX
6autism susceptibility, x-linked 29.3GYPB, SHOX

Graphical network of diseases related to Langer Mesomelic Dysplasia:



Diseases related to langer mesomelic dysplasia

Symptoms for Langer Mesomelic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Symptoms:

 51 (show all 13)
  • high vaulted/narrow palate
  • rhizomelic micromelia
  • mesomelic micromelia
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • wrist/carpal anomalies
  • madelung's deformity
  • ulnar deviation of fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • short stature/dwarfism/nanism
  • hypoplastic mandibula/partial absence of the mandibula

HPO human phenotypes related to Langer Mesomelic Dysplasia:

(show all 21)
id Description Frequency HPO Source Accession
1 ulnar deviation of finger hallmark (90%) HP:0009465
2 abnormality of epiphysis morphology hallmark (90%) HP:0005930
3 short stature hallmark (90%) HP:0004322
4 madelung deformity hallmark (90%) HP:0003067
5 abnormality of the fibula hallmark (90%) HP:0002991
6 micromelia hallmark (90%) HP:0002983
7 abnormality of the femur hallmark (90%) HP:0002823
8 abnormality of the palate hallmark (90%) HP:0000174
9 micrognathia occasional (7.5%) HP:0000347
10 short femoral neck HP:0100864
11 mesomelic short stature HP:0008845
12 shortening of the tibia HP:0006436
13 rudimentary fibula HP:0006381
14 broad ulna HP:0003993
15 madelung deformity HP:0003067
16 mesomelia HP:0003027
17 hypoplasia of the ulna HP:0003022
18 radial bowing HP:0002986
19 hypoplasia of the radius HP:0002984
20 lumbar hyperlordosis HP:0002938
21 micrognathia HP:0000347

Drugs & Therapeutics for Langer Mesomelic Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

About this section

Anatomical Context for Langer Mesomelic Dysplasia

About this section

MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

33
Bone, Breast, Lung, Thyroid, Endothelial, Pituitary

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

About this section

Publications for Langer Mesomelic Dysplasia

About this section

Articles related to Langer Mesomelic Dysplasia:

(show all 14)
idTitleAuthorsYear
1
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia. (24311385)
2014
2
Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review. (23883335)
2013
3
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
4
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. (21692083)
2011
5
Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (21712857)
2011
6
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. (19850687)
2009
7
The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (17935511)
2007
8
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). (17394206)
2007
9
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
10
Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)
2002
11
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)
2002
12
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. (11186941)
2000
13
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
14
Heterozygous manifestations of Langer mesomelic dysplasia. (3568430)
1987

Variations for Langer Mesomelic Dysplasia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Langer Mesomelic Dysplasia:

67
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416

Clinvar genetic disease variations for Langer Mesomelic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)single nucleotide variantPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXSHOX, DELdeletionPathogenic
3SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh37Chr X, 601571: 601571
4SHOXSHOX, 1-BP INS, 723CinsertionPathogenic
5SHOXSHOX, 2-BP INS, 350AGinsertionPathogenic
6SHOXSHOX, 1.1-MB DELdeletionPathogenic

Expression for genes affiliated with Langer Mesomelic Dysplasia

About this section
Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.

Pathways for genes affiliated with Langer Mesomelic Dysplasia

About this section

GO Terms for genes affiliated with Langer Mesomelic Dysplasia

About this section

Sources for Langer Mesomelic Dysplasia

About this section
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