MCID: LNG040
MIFTS: 30

Langer Mesomelic Dysplasia malady

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

Aliases & Classifications for Langer Mesomelic Dysplasia

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Sources:
12diseasecard, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 51 47 25 53 69 26 12 49
Lmd 25 69
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 25
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 47
 
Mesomelic Dwarfism, Langer Type 53
Dyschondrosteosis, Homozygous 47
Dyschondrosteosis Homozygous 25
Langer Mesomelic Dwarfism 25

Characteristics:

Orphanet epidemiological data:

53
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
langer mesomelic dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 249700
Orphanet53 ORPHA2632
ICD10 via Orphanet30 Q87.1
MESH via Orphanet39 C537267
UMLS via Orphanet68 C0432230
MedGen36 C0432230

Summaries for Langer Mesomelic Dysplasia

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Genetics Home Reference:25 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 langer mesomelic dwarfism and leri-weill dyschondrosteosis, and has symptoms including abnormality of the palate, abnormality of the femur and micromelia. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 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:51 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

Wikipedia:70 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Related Diseases for Langer Mesomelic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1langer mesomelic dwarfism12.3
2leri-weill dyschondrosteosis11.5
3dwarfism10.3
4turner syndrome10.0

Symptoms for Langer Mesomelic Dysplasia

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Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Human phenotypes related to Langer Mesomelic Dysplasia:

 63 53 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 hallmark (90%) HP:0000174
2 abnormality of the femur63 hallmark (90%) HP:0002823
3 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
4 abnormality of the fibula63 hallmark (90%) HP:0002991
5 madelung deformity63 53 hallmark (90%) Very frequent (99-80%) HP:0003067
6 short stature63 hallmark (90%) HP:0004322
7 abnormality of epiphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0005930
8 ulnar deviation of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009465
9 micrognathia63 occasional (7.5%) HP:0000347
10 lumbar hyperlordosis63 HP:0002938
11 hypoplasia of the radius63 HP:0002984
12 radial bowing63 HP:0002986
13 hypoplasia of the ulna63 HP:0003022
14 mesomelia63 HP:0003027
15 broad ulna63 HP:0003993
16 rudimentary fibula63 HP:0006381
17 shortening of the tibia63 HP:0006436
18 mesomelic short stature63 HP:0008845
19 short femoral neck63 53 Very frequent (99-80%) HP:0100864
20 high palate53 Very frequent (99-80%)
21 abnormality of the carpal bones53 Very frequent (99-80%)
22 abnormality of the ulna53 Very frequent (99-80%)
23 severe short stature53 Very frequent (99-80%)
24 mesomelic/rhizomelic limb shortening53 Very frequent (99-80%)
25 bowing of the long bones53 Very frequent (99-80%)
26 aplasia/hypoplasia of the fibula53 Very frequent (99-80%)
27 disproportionate short-limb short stature53 Very frequent (99-80%)

Drugs & Therapeutics for Langer Mesomelic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

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Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome26

Anatomical Context for Langer Mesomelic Dysplasia

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MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

35
Bone

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

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Publications for Langer Mesomelic Dysplasia

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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
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. (12116253)
2002
11
Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)
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

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

69
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg168TrpVAR_019416rs137852557

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)SNVPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXSHOX, DELdeletionPathogenicChr na, -1: -1
3SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)SNVPathogenicrs137852556GRCh37Chr X, 601586: 601586
4SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)SNVPathogenicrs137852557GRCh37Chr X, 601571: 601571
5SHOXSHOX, 1-BP INS, 723CinsertionPathogenicChr na, -1: -1
6SHOXSHOX, 2-BP INS, 350AGinsertionPathogenicChr na, -1: -1
7SHOXSHOX, 1.1-MB DELdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Langer Mesomelic Dysplasia

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Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.

Pathways for genes affiliated with Langer Mesomelic Dysplasia

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GO Terms for genes affiliated with Langer Mesomelic Dysplasia

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Sources for Langer Mesomelic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet