LMD
MCID: LNG040
MIFTS: 33

Langer Mesomelic Dysplasia (LMD) malady

Bone, Fetal categories

Summaries for Langer Mesomelic Dysplasia

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 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: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to dwarfism and short stature, and has symptoms including high vaulted/narrow palate, rhizomelic micromelia and mesomelic micromelia. An important gene associated with Langer Mesomelic Dysplasia is SHOX (short stature homeobox). The compound steroid have been mentioned in the context of this disorder.

Description from OMIM:47 249700

Aliases & Classifications for Langer Mesomelic Dysplasia

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
langer mesomelic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

langer mesomelic dysplasia 43 22 21 47 45 49 61
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type 21
mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type 43
mesomelic dwarfism, langer type 49
dyschondrosteosis, homozygous 43
dyschondrosteosis homozygous 21
langer mesomelic dwarfism 21
lmd 21


External Ids:

OMIM47 249700
MESH via Orphanet36 C537267
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 38494008
UMLS via Orphanet62 C0432230

Related Diseases for Langer Mesomelic Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism30.8SHOX, COMP
2short stature30.4COMP, SHOX
3leri weill dyschondrosteosis10.5
4turner syndrome10.3
5short syndrome10.3
6langer mesomelic dwarfism10.3
7l�ri-weill dyschondrosteosis10.3
8achondroplasia10.0COMP
9skeletal dysplasias10.0COMP, SHOX
10hypertrophy of breast10.0COMP, SHOX

Graphical network of diseases related to Langer Mesomelic Dysplasia:



Diseases related to langer mesomelic dysplasia

Clinical Features for Langer Mesomelic Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

249700

Clinical synopsis from OMIM:

249700

Symptoms:

49 (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

Drugs & Therapeutics for Langer Mesomelic Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Langer Mesomelic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Langer Mesomelic Dysplasia

Search NIH Clinical Center for Langer Mesomelic Dysplasia

Search CenterWatch for Langer Mesomelic Dysplasia

Genetic Tests for Langer Mesomelic Dysplasia

Sources:
22GTR
See all sources

Genetic tests related to Langer Mesomelic Dysplasia:

id Genetic test Affiliating Genes
1 Langer Mesomelic Dysplasia Syndrome22

Anatomical Context for Langer Mesomelic Dysplasia

Animal Models for Langer Mesomelic Dysplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Langer Mesomelic Dysplasia

Sources:
51PubMed
See all sources

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

Genetic Variations for Langer Mesomelic Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Langer Mesomelic Dysplasia:

63
id Symbol AA change Variation SNP ID
1SHOXp.Arg168TrpVAR_019416

Expression for genes affiliated with Langer Mesomelic Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Langer Mesomelic Dysplasia

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

Pathways for genes affiliated with Langer Mesomelic Dysplasia

Compounds for genes affiliated with Langer Mesomelic Dysplasia

Sources:
45Novoseek
See all sources

Compounds related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid459.1SHOX, COMP

GO Terms for genes affiliated with Langer Mesomelic Dysplasia

Sources:
16Gene Ontology
See all sources

Biological processes related to Langer Mesomelic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.1SHOX, COMP

Products for genes affiliated with Langer Mesomelic Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Langer Mesomelic Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet