LMD
MCID: LNG040
MIFTS: 36

Langer Mesomelic Dysplasia (LMD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Langer Mesomelic Dysplasia

MalaCards integrated aliases for Langer Mesomelic Dysplasia:

Name: Langer Mesomelic Dysplasia 57 19 42 58 73 12 53 75
Lmd 57 42 73
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type 57 42
Langer Mesomelic Dysplasia Syndrome 28 5
Dyschondrosteosis, Homozygous 57 19
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula and Mandible Type 19
Mesomelic Dwarfism, Langer Type 58
Dyschondrosteosis Homozygous 42
Dysplasia, Mesomelic, Langer 38
Langer Mesomelic Dwarfism 42

Characteristics:


Inheritance:

Autosomal recessive 58 , Pseudoautosomal recessive 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
shox is located in the pseudoautosomal region of the x and y chromosomes
lmd is the homozygous form of the less severe leri-weill dyschondrosteosis


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 249700
MESH via Orphanet 44 C537267
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C0432230
Orphanet 58 ORPHA2632
MedGen 40 C0432230

Summaries for Langer Mesomelic Dysplasia

MedlinePlus Genetics: 42 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 turner syndrome. An important gene associated with Langer Mesomelic Dysplasia is SHOX (Short Stature Homeobox). Affiliated tissues include bone and eye, and related phenotypes are high palate and bowing of the long bones

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Orphanet: 58 A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Wikipedia: 75 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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 leri-weill dyschondrosteosis 29.5 SHOX LOC107652445 CNE9 CNE8 CNE7 CNE6
2 turner syndrome 10.4
3 shox deficiency disorders 10.4
4 madelung deformity 10.4
5 down syndrome 10.2
6 gonadal dysgenesis 10.2
7 mixed gonadal dysgenesis 10.2
8 hypochondroplasia 10.2
9 isolated growth hormone deficiency, type ia 10.2
10 pseudoachondroplasia 10.2
11 mesomelia 10.2
12 amyloidosis 10.1
13 alzheimer disease, familial, 1 9.9
14 cerebral amyloid angiopathy, cst3-related 9.9
15 amyloidosis, familial visceral 9.9
16 thyroid hormone resistance, selective pituitary 9.9
17 systemic lupus erythematosus 9.9
18 iga nephropathy 1 9.9
19 uruguay faciocardiomusculoskeletal syndrome 9.9
20 partington syndrome 9.9
21 microvascular complications of diabetes 1 9.9
22 microvascular complications of diabetes 2 9.9
23 microvascular complications of diabetes 3 9.9
24 microvascular complications of diabetes 4 9.9
25 microvascular complications of diabetes 5 9.9
26 microvascular complications of diabetes 6 9.9
27 microvascular complications of diabetes 7 9.9
28 membranous nephropathy 9.9
29 glucose intolerance 9.9
30 henoch-schoenlein purpura 9.9
31 melanoma 9.9
32 glomerulonephritis 9.9
33 iga glomerulonephritis 9.9
34 severe combined immunodeficiency 9.9
35 fibrillary glomerulonephritis 9.9
36 short stature, idiopathic, x-linked 9.8 SHOX LOC107652445
37 shox-related short stature 9.7 SHOX LOC107652445
38 autism 8.5 SHOX CNE9 CNE8 CNE7 CNE6 CNE5

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



Diseases related to Langer Mesomelic Dysplasia

Symptoms & Phenotypes for Langer Mesomelic Dysplasia

Human phenotypes related to Langer Mesomelic Dysplasia:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
2 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
3 madelung deformity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003067
4 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
5 ulnar deviation of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009465
6 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
7 mesomelic/rhizomelic limb shortening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005026
8 aplasia/hypoplasia of the fibula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006492
9 short femoral neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100864
10 abnormal morphology of ulna 30 Hallmark (90%) HP:0040071
11 abnormal carpal morphology 30 Hallmark (90%) HP:0001191
12 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
13 abnormality of the ulna 58 Very frequent (99-80%)
14 micrognathia 30 HP:0000347
15 abnormality of epiphysis morphology 58 Very frequent (99-80%)
16 hypoplasia of the ulna 30 HP:0003022
17 lumbar hyperlordosis 30 HP:0002938
18 disproportionate short-limb short stature 58 Very frequent (99-80%)
19 hypoplasia of the radius 30 HP:0002984
20 abnormality of the carpal bones 58 Very frequent (99-80%)
21 radial bowing 30 HP:0002986
22 mesomelia 30 HP:0003027
23 short tibia 30 HP:0005736
24 rudimentary fibula 30 HP:0006381
25 mesomelic short stature 30 HP:0008845
26 broad ulna 30 HP:0003993

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 28 SHOX

Anatomical Context for Langer Mesomelic Dysplasia

Organs/tissues related to Langer Mesomelic Dysplasia:

MalaCards : Bone, Eye

Publications for Langer Mesomelic Dysplasia

Articles related to Langer Mesomelic Dysplasia:

(show top 50) (show all 65)
# Title Authors PMID Year
1
The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. 53 62 57 5
17935511 2007
2
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. 62 57 5
21712857 2011
3
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). 62 57 5
9590292 1998
4
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. 53 62 57
15214013 2004
5
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. 53 62 57
15173321 2004
6
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 53 62 5
11889214 2002
7
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. 53 62 57
11186941 2000
8
Complete SHOX deficiency causes Langer mesomelic dysplasia. 62 5
12116254 2002
9
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. 62 5
9590293 1998
10
Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. 62 57
3071136 1988
11
Heterozygous manifestations of Langer mesomelic dysplasia. 62 57
3568430 1987
12
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia. 57
15173249 2004
13
The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? 57
7586651 1995
14
Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis. 57
7428776 1980
15
Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis. 57
429003 1979
16
Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. 57
1121969 1975
17
Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. 57
6059604 1967
18
AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS. 57
14074326 1963
19
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. 53 62
19850687 2009
20
SHOX at a glance: from gene to protein. 53 62
17922307 2007
21
Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton. 53 62
17481601 2007
22
Short stature and dysmorphology associated with defects in the SHOX gene. 53 62
16807223 2006
23
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. 53 62
16175500 2005
24
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 53 62
15931595 2005
25
SHOX: growth, Léri-Weill and Turner syndromes. 53 62
10878753 2000
26
Clinical impact of variants in non-coding regions of SHOX - Current knowledge. 62
35074420 2022
27
Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes. 62
34122528 2021
28
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature 62
32295321 2020
29
Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies. 62
33240610 2020
30
Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis. 62
30529377 2019
31
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies. 62
30626445 2019
32
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. 62
27604558 2017
33
A Track Record on SHOX: From Basic Research to Complex Models and Therapy. 62
27355317 2016
34
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. 62
26512353 2015
35
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects. 62
26337568 2015
36
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect. 62
25125269 2014
37
Langer mesomelic dysplasia in early fetuses: two cases and a literature review. 62
23883335 2014
38
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress. 62
24186869 2014
39
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia. 62
24311385 2014
40
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development. 62
24421874 2014
41
Identification of novel SHOX target genes in the developing limb using a transgenic mouse model. 62
24887312 2014
42
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. 62
23636926 2013
43
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. 62
22461651 2012
44
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). 62
22510850 2012
45
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family. 62
21692083 2011
46
FGFR3 is a target of the homeobox transcription factor SHOX in limb development. 62
21273290 2011
47
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. 62
21068148 2011
48
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. 62
20683993 2010
49
Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency. 62
21057184 2010
50
Epidemiology of SHOX deficiency. 62
21057178 2010

Variations for Langer Mesomelic Dysplasia

ClinVar genetic disease variations for Langer Mesomelic Dysplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOX NM_000451.4(SHOX):c.728dup (p.Pro244fs) DUP Pathogenic
9880 rs757845999 GRCh37: X:605214-605215
GRCh38: X:644479-644480
2 SHOX NG_009385.2:(?_5001)_(40068_?)del DEL Pathogenic
9874 GRCh37:
GRCh38:
3 SHOX SHOX, 1.1-MB DEL DEL Pathogenic
9884 GRCh37:
GRCh38:
4 LOC107652445, SHOX NM_000451.4(SHOX):c.352_353dup (p.Arg119fs) MICROSAT Pathogenic
9881 rs1569493663 GRCh37: X:595424-595425
GRCh38: X:634689-634690
5 SHOX NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) SNV Pathogenic
9879 rs137852557 GRCh37: X:601571-601571
GRCh38: Y:640836-640836
6 SHOX NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) SNV Pathogenic
29994 rs397514461 GRCh37: X:601577-601577
GRCh38: X:640842-640842
7 LOC107652445, SHOX NM_000451.4(SHOX):c.389A>C (p.Asn130Thr) SNV Uncertain Significance
1034222 rs2052712369 GRCh37: X:595464-595464
GRCh38: X:634729-634729
8 SHOX NM_000451.4(SHOX):c.38A>G (p.Asp13Gly) SNV Uncertain Significance
1034223 rs1334507288 GRCh37: X:591670-591670
GRCh38: X:630935-630935

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

73
# Symbol AA change Variation ID SNP ID
1 SHOX p.Arg168Trp VAR_019416 rs137852557

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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