LMD
MCID: LNG040
MIFTS: 35

Langer Mesomelic Dysplasia (LMD)

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

Aliases & Classifications for Langer Mesomelic Dysplasia

MalaCards integrated aliases for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 57 53 25 59 75 13 55
Lmd 57 25 75
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 57 25
Langer Mesomelic Dysplasia Syndrome 29 6
Dyschondrosteosis, Homozygous 57 53
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 53
Mesomelic Dwarfism, Langer Type 59
Dyschondrosteosis Homozygous 25
Dysplasia, Mesomelic, Langer 40
Langer Mesomelic Dwarfism 25

Characteristics:

Orphanet epidemiological data:

59
langer mesomelic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lmd is the homozygous form of the less severe leri-weill dyschondrosteosis


HPO:

32
langer mesomelic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 249700
Orphanet 59 ORPHA2632
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 45 C537267
UMLS via Orphanet 74 C0432230
MedGen 42 C0432230

Summaries for Langer Mesomelic Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2632Disease definitionLanger mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.EpidemiologyPrevalence is unknown but less than 70 cases have been reported in the literature so far.Clinical descriptionLMD represents a more severe form of Léri-Weill dyschondrosteosis (LWD; see this term) with severely shortened long bones of the limbs (involving both the middle and proximal segments), deformity of the humeral head, angulation of the radial shaft, carpal distortion, a short femoral neck, and absence or hypoplasia of the proximal half of the fibula. Mild hypoplasia of the mandible has been reported in some cases. In contrast to LWD, Madelung deformity (see this term) is not typically present in LMD. Associated malformations are rare and intellect is normal in almost all reported LMD cases.EtiologyLMD is inherited in a pseudoautosomal recessive manner and is associated with homozygous or compound heterozygousmutations and deletions of the Short stature HomeobOX (SHOX) gene (which maps to the pseudoautosomal region 1 (PAR1) of the sex chromosomes; Xp22.33 and Yp11.32) or of the downstream PAR1 (where SHOX enhancer elements are located). LMD is part of a spectrum of disorders (ranging from the most severe, LMD, to LWD, isolated Madelung deformity and so-called idiopathic short stature; see these terms), all associated with SHOX/PAR1 anomalies. The prevalence of SHOX/PAR1 mutations is estimated at 1/1000.Diagnostic methodsDiagnosis of LMD may be suspected on the basis of the clinical and radiologic findings and can be confirmed by molecular analysis (microsatellite analysis, FISH or, preferably, MLPA for PAR1 deletions, high resolution melting (HRM), dHPLC and/or DNA sequencing for point mutations, small deletions and insertions of SHOX).Differential diagnosisLMD may also be suspected by ultrasound at 20 weeks of gestation and at this stage should be differentiated from femur-fibula-ulna (FFU) complex and the Reinhardt-Pfeiffer form of mesomelic dysplasia (see these terms).Antenatal diagnosisPrenatal genetic testing is available; however, requests for testing for these disorders are uncommon but are more frequent for LMD.Genetic counselingGenetic counseling should be proposed and families should be informed that SHOX/PAR1 anomalies are inherited in a pseudoautosomal dominant manner. Each child of an individual with LWD has a 50% chance of inheriting the mutation. If both parents have LWD, the offspring have a 50% chance of having LWD, a 25% chance of having LMD, and a 25% chance of having neither condition. All children of an individual with LMD and an unaffected parent will present with LWD.Management and treatmentThere is no effective treatment for LMD. The symptomatic medical management of children with LMD begins at birth and continues into adulthood. Careful monitoring of height, weight, and head circumference is essential.PrognosisThe short stature and limb deformities are severe but life expectancy is normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Langer Mesomelic Dysplasia, also known as lmd, is related to leri-weill dyschondrosteosis and ulna and fibula, hypoplasia of. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone, testes and breast, and related phenotypes are abnormality of epiphysis morphology and high palate

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).

OMIM : 57 Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes. (249700)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Related Diseases for Langer Mesomelic Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 leri-weill dyschondrosteosis 32.2 CNE6 CNE7 SHOX
2 ulna and fibula, hypoplasia of 11.4
3 mesomelia-synostoses syndrome 11.3
4 dwarfism 10.5
5 turner syndrome 10.2
6 alzheimer disease 10.2
7 autism 8.6 CNE-2 CNE-3 CNE-5 CNE4 CNE5 CNE6

Graphical network of the top 20 diseases related to Langer Mesomelic Dysplasia:



Diseases related to Langer Mesomelic Dysplasia

Symptoms & Phenotypes for Langer Mesomelic Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia

Skeletal Limbs:
mesomelia
rudimentary fibula
short femoral neck
short, broad ulna
dorsolateral bowed, short radii
more
Skeletal Spine:
increased lumbar lordosis

Skeletal Hands:
madelung deformity

Neurologic Central Nervous System:
normal intelligence

Growth Height:
short stature, disproportionate mesomelic


Clinical features from OMIM:

249700

Human phenotypes related to Langer Mesomelic Dysplasia:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
4 abnormality of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0002997
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 madelung deformity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003067
7 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
8 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
9 abnormality of the carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001191
10 mesomelic/rhizomelic limb shortening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005026
11 aplasia/hypoplasia of the fibula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006492
12 short femoral neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0100864
13 micrognathia 32 HP:0000347
14 disproportionate short-limb short stature 59 Very frequent (99-80%)
15 hypoplasia of the ulna 32 HP:0003022
16 hypoplasia of the radius 32 HP:0002984
17 lumbar hyperlordosis 32 HP:0002938
18 mesomelia 32 HP:0003027
19 radial bowing 32 HP:0002986
20 rudimentary fibula 32 HP:0006381
21 mesomelic short stature 32 HP:0008845
22 shortening of the tibia 32 HP:0006436
23 broad ulna 32 HP:0003993

Drugs & Therapeutics for Langer Mesomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

Genetic tests related to Langer Mesomelic Dysplasia:

# Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome 29 SHOX

Anatomical Context for Langer Mesomelic Dysplasia

MalaCards organs/tissues related to Langer Mesomelic Dysplasia:

41
Bone, Testes, Breast

Publications for Langer Mesomelic Dysplasia

Articles related to Langer Mesomelic Dysplasia:

(show all 35)
# Title Authors Year
1
Corrigendum to "LMD proteomics provides evidence for hippocampus field-specific motor protein abundance changes with relevance to Alzheimer's disease" [BBAPAP 1865 (6) (2017) 703-714]. ( 29429852 )
2018
2
LMD Based Features for the Automatic Seizure Detection of EEG Signals Using SVM. ( 27662677 )
2017
3
LMD proteomics provides evidence for hippocampus field-specific motor protein abundance changes with relevance to Alzheimer's disease. ( 28377147 )
2017
4
Identification of amyloid precursor protein from autopsy and biopsy specimens using LMD-LC-MS/MS: the experience at Kumamoto University. ( 28434365 )
2017
5
Characterization and Identification of a woody lesion mimic mutant lmd, showing defence response and resistance to Alternaria alternate in birch. ( 28900274 )
2017
6
Metabolite profiling of tissues of Acorus calamus and Acorus tatarinowii rhizomes by using LMD, UHPLC-QTOF MS, and GC-MS. ( 25760385 )
2015
7
Analysis of steroidogenic pathway key transcripts in interrenal cells isolated by laser microdissection (LMD) in stressed rainbow trout. ( 26358831 )
2015
8
Response of S. thermophilus LMD-9 to bacitracin: involvement of a BceRS/AB-like module and of the rhamnose-glucose polysaccharide synthesis pathway. ( 24607862 )
2014
9
The naturally competent strain Streptococcus thermophilus LMD-9 as a new tool to anchor heterologous proteins on the cell surface. ( 24902482 )
2014
10
LMD method and multi-class RWSVM of fault diagnosis for rotating machinery using condition monitoring information. ( 23881133 )
2013
11
Breast cancer and leptomeningeal disease (LMD): hormone receptor status influences time to development of LMD and survival from LMD diagnosis. ( 23756727 )
2013
12
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). ( 22510850 )
2012
13
Short-term regulation of the hypothalamic melanocortinergic system under fasting and defined glucose-refeeding conditions in rats: a laser capture microdissection (LMD)-based study. ( 22450045 )
2012
14
Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. ( 21712857 )
2011
15
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. ( 21692083 )
2011
16
Specialized adaptation of a lactic acid bacterium to the milk environment: the comparative genomics of Streptococcus thermophilus LMD-9. ( 21995282 )
2011
17
Academic partnerships and key leaders emerging from communities in the lower Mississippi Delta (LMD): a community-based participatory research model. ( 22073526 )
2011
18
Combinatorial binding leads to diverse regulatory responses: Lmd is a tissue-specific modulator of Mef2 activity. ( 20617173 )
2010
19
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
20
The oligopeptide transport system is essential for the development of natural competence in Streptococcus thermophilus strain LMD-9. ( 19447907 )
2009
21
The inhibitory spectrum of thermophilin 9 from Streptococcus thermophilus LMD-9 depends on the production of multiple peptides and the activity of BlpG(St), a thiol-disulfide oxidase. ( 18156339 )
2008
22
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). ( 17394206 )
2007
23
Modulatory effects of heparin and short-length oligosaccharides of heparin on the metastasis and growth of LMD MDA-MB 231 breast cancer cells in vivo. ( 17726466 )
2007
24
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
25
Nuclear localisation sequence templated nonviral gene delivery vectors: investigation of intracellular trafficking events of LMD and LD vector systems. ( 12672108 )
2003
26
Complete SHOX deficiency causes Langer mesomelic dysplasia. ( 12116254 )
2002
27
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. ( 12116253 )
2002
28
Characterisation of LMD virus-like nanoparticles self-assembled from cationic liposomes, adenovirus core peptide mu and plasmid DNA. ( 11973632 )
2002
29
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. ( 11186941 )
2000
30
Transcriptional analysis of the nirS gene, encoding cytochrome cd1 nitrite reductase, of Paracoccus pantotrophus LMD 92.63. ( 10708389 )
2000
31
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). ( 10770125 )
1999
32
Selection of glucose-assimilating variants of Acinetobacter calcoaceticus LMD 79.41 in chemostat culture. ( 2545167 )
1989
33
Quinoprotein D-glucose dehydrogenases in Acinetobacter calcoaceticus LMD 79.41: purification and characterization of the membrane-bound enzyme distinct from the soluble enzyme. ( 2549865 )
1989
34
Heterozygous manifestations of Langer mesomelic dysplasia. ( 3568430 )
1987
35
Views of an LMD. ( 7154659 )
1982

Variations for Langer Mesomelic Dysplasia

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

75
# Symbol AA change Variation ID SNP ID
1 SHOX p.Arg168Trp VAR_019416 rs137852557

ClinVar genetic disease variations for Langer Mesomelic Dysplasia:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOX SHOX, DEL deletion Pathogenic
2 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome X, 601586: 601586
3 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome X, 640851: 640851
4 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome Y, 640851: 640851
5 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome Y, 551586: 551586
6 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh38 Chromosome X, 640836: 640836
7 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh37 Chromosome X, 601571: 601571
8 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh37 Chromosome Y, 551571: 551571
9 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh38 Chromosome Y, 640836: 640836
10 SHOX SHOX, 1-BP INS, 723C insertion Pathogenic
11 SHOX SHOX, 2-BP INS, 350AG insertion Pathogenic
12 SHOX SHOX, 1.1-MB DEL deletion Pathogenic
13 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh38 Chromosome X, 640842: 640842
14 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh37 Chromosome X, 601577: 601577
15 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh37 Chromosome Y, 551577: 551577
16 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh38 Chromosome Y, 640842: 640842

Expression for Langer Mesomelic Dysplasia

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

Pathways for Langer Mesomelic Dysplasia

GO Terms for Langer Mesomelic Dysplasia

Sources for Langer Mesomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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