MCID: MSM003
MIFTS: 15

Mesomelia

Categories: Rare diseases

Aliases & Classifications for Mesomelia

MalaCards integrated aliases for Mesomelia:

Name: Mesomelia 20 29

Classifications:



Summaries for Mesomelia

MalaCards based summary : Mesomelia is related to mesomelia-synostoses syndrome and polydactyly. An important gene associated with Mesomelia is DEL8Q13 (Mesomelia-Synostoses Syndrome). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When... more...

Related Diseases for Mesomelia

Diseases related to Mesomelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 mesomelia-synostoses syndrome 31.6 SULF1 SLCO5A1 DEL8Q13
2 polydactyly 29.6 ZRS LMBR1
3 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.3
4 renal dysplasia-limb defects syndrome 11.3
5 robinow syndrome, autosomal recessive 1 11.2
6 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness 11.1
7 endove syndrome, limb-only type 11.1
8 endove syndrome, limb-brain type 11.1
9 leri-weill dyschondrosteosis 11.0
10 robinow syndrome, autosomal dominant 3 11.0
11 acromesomelic dysplasia 11.0
12 ulnar hypoplasia with mental retardation 10.9
13 langer mesomelic dysplasia 10.9
14 mesomelic dysplasia, savarirayan type 10.9
15 spondyloepimetaphyseal dysplasia, krakow type 10.9
16 mesomelic dysplasia, camera type 10.0
17 polydactyly, preaxial ii 9.9 ZRS LMBR1
18 syndactyly, type iv 9.9 ZRS LMBR1
19 hypertelorism 9.9
20 mesomelic dysplasia, kantaputra type 9.9
21 odontochondrodysplasia 9.9
22 branchiootic syndrome 1 9.9
23 orthostatic intolerance 9.9
24 brachydactyly 9.9
25 ptosis 9.9
26 metaphyseal dysplasia 9.9
27 sensorineural hearing loss 9.9
28 esophageal atresia 9.9
29 synostosis 9.9
30 skeletal dysplasias 9.9
31 central polydactyly 9.9
32 renal dysplasia 9.9
33 split-foot deformity with mandibulofacial dysostosis 9.8 ZRS LMBR1
34 tibia, hypoplasia or aplasia of, with polydactyly 9.8 ZRS LMBR1
35 holoprosencephaly 3 9.7 ZRS LMBR1
36 laurin-sandrow syndrome 9.6 ZRS LMBR1

Graphical network of the top 20 diseases related to Mesomelia:



Diseases related to Mesomelia

Symptoms & Phenotypes for Mesomelia

GenomeRNAi Phenotypes related to Mesomelia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.17 LMBR1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 SULF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.17 SULF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 9.17 SULF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.17 SULF1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.17 SULF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.17 SULF1

Drugs & Therapeutics for Mesomelia

Search Clinical Trials , NIH Clinical Center for Mesomelia

Genetic Tests for Mesomelia

Genetic tests related to Mesomelia:

# Genetic test Affiliating Genes
1 Mesomelia 29

Anatomical Context for Mesomelia

Publications for Mesomelia

Articles related to Mesomelia:

(show all 48)
# Title Authors PMID Year
1
Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report. 61
32633455 2021
2
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. 61
32783269 2020
3
Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene. 61
32932528 2020
4
Extremity anomalies associated with Robinow syndrome. 61
32974972 2020
5
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article. 61
32172608 2020
6
Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan. 61
31146331 2019
7
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene. 61
30450550 2019
8
Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects. 61
32344414 2019
9
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome. 61
29517766 2018
10
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. 61
29322508 2018
11
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 61
29575616 2018
12
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. 61
28328141 2017
13
Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia? 61
27429682 2016
14
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. 61
26032025 2015
15
An osteosclerotic form of Robinow syndrome. 61
25045061 2014
16
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. 61
24478176 2014
17
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. 61
24932600 2014
18
Diastrophic dysplasia: prenatal diagnosis and review of the literature. 61
23657516 2013
19
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. 61
22903874 2012
20
Prenatal prevalence of skeletal dysplasias and a proposal ultrasonographic diagnosis approach. 61
23544305 2012
21
Sulfate in fetal development. 61
21419855 2011
22
Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean? 61
20681991 2011
23
Short stature due to SHOX deficiency: genotype, phenotype, and therapy. 61
21325865 2011
24
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. 61
21204228 2011
25
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. 61
20602915 2010
26
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. 61
19725128 2009
27
Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): second report in a Mexican patient. 61
18203165 2008
28
Madelung's deformity: a spectrum of presentation. 61
17996774 2007
29
SHOX Deficiency Disorders 61
20301394 2005
30
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. 61
16007631 2005
31
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness. 61
15954110 2005
32
Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency. 61
24790304 2005
33
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. 61
14636323 2003
34
Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height. 61
12955769 2003
35
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. 61
14514349 2003
36
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. 61
12476453 2003
37
Phenotypes Associated with SHOX Deficiency. 61
11739418 2001
38
Vitamin A mediated limb deformities in the common Indian toad, Bufo melanostictus (Schneider). 61
10927869 2000
39
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. 61
10599728 1999
40
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. 61
8978012 1996
41
Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome. 61
7625433 1995
42
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face. 61
8484398 1993
43
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. 61
3740094 1986
44
New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion. 61
6711618 1984
45
Madelung's deformity and dyschondrosteosis. 61
7419875 1980
46
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? 61
641945 1978
47
Madelung's disease of the wrist and dyschondrosteosis. 61
956255 1976
48
Dyschondrosteosis and Madelung's deformity. Report of three kindreds and review of the literature. 61
1277646 1976

Variations for Mesomelia

Expression for Mesomelia

Search GEO for disease gene expression data for Mesomelia.

Pathways for Mesomelia

GO Terms for Mesomelia

Sources for Mesomelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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