MCID: MDL024
MIFTS: 16

Madelung Deformity

Categories: Rare diseases

Aliases & Classifications for Madelung Deformity

MalaCards integrated aliases for Madelung Deformity:

Name: Madelung Deformity 20 29
Madelungs Deformity 54

Classifications:



Summaries for Madelung Deformity

GARD : 20 Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. Symptoms typically develop in mid- to late-childhood or early adolescence (around 6 to 13 years of age) and usually affect both wrists. It is more commonly observed in females. Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist. In addition to the abnormal growth, there is also an abnormal palmar (Vickers' ligament) that is thought to contribute to the deformity. MD seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint). MD can also occur as part of another conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by mutations or losses of genetic material involving the SHOX gene. Some cases of isolated MD may be caused by alterations in the SHOX gene. Treatment may include medication, wrist splints and devices that reduce the pain, and surgical correction of the deformity.

MalaCards based summary : Madelung Deformity, also known as madelungs deformity, is related to leri-weill dyschondrosteosis and langer mesomelic dysplasia. An important gene associated with Madelung Deformity is SHOX (Short Stature Homeobox).

Related Diseases for Madelung Deformity

Graphical network of the top 20 diseases related to Madelung Deformity:



Diseases related to Madelung Deformity

Symptoms & Phenotypes for Madelung Deformity

Drugs & Therapeutics for Madelung Deformity

Search Clinical Trials , NIH Clinical Center for Madelung Deformity

Genetic Tests for Madelung Deformity

Genetic tests related to Madelung Deformity:

# Genetic test Affiliating Genes
1 Madelung Deformity 29

Anatomical Context for Madelung Deformity

Publications for Madelung Deformity

Articles related to Madelung Deformity:

(show top 50) (show all 169)
# Title Authors PMID Year
1
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 61 54
17182655 2007
2
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. 61 54
17028440 2007
3
High incidence of SHOX anomalies in individuals with short stature. 61 54
16597678 2006
4
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. 54 61
16175500 2005
5
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. 61 54
15356038 2004
6
Familial growth and skeletal features associated with SHOX haploinsufficiency. 61 54
14513875 2003
7
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. 61 54
12362035 2002
8
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 61 54
11889216 2002
9
SHOX intragenic microsatellite analysis in patients with short stature. 61 54
11874178 2002
10
Phenotypes Associated with SHOX Deficiency. 61 54
11739418 2001
11
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. 61 54
11735031 2001
12
Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. 54 61
11523902 2001
13
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. 54 61
11260213 2001
14
SHOX haploinsufficiency and overdosage: impact of gonadal function status. 61 54
11134233 2001
15
SHOX in short stature syndromes. 54 61
11408757 2001
16
SHOX: growth, Léri-Weill and Turner syndromes. 61 54
10878753 2000
17
Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report. 61
32633455 2021
18
The prevalence of Vickers' ligament in Madelung's deformity: a retrospective multicentre study of 75 surgical cases. 61
33459142 2021
19
Madelung Deformity. 61
31714299 2020
20
Selective Carpus Denervation - One of Treatment Options of Madelung Deformity. 61
31533161 2020
21
Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene. 61
32932528 2020
22
A Variant of Madelung Deformity:Management of the Distal Ulna Within the Carpal Canal. 61
32741593 2020
23
Madelung Deformity of the Wrist Managed Conservatively. 61
32582486 2020
24
Functional Outcomes After Sauve-Kapandji Arthrodesis. 61
31948706 2020
25
Long-term Outcomes Following Vickers Ligament Release and Growth Modulation for the Treatment of Madelung Deformity. 61
32032220 2020
26
Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies. 61
33240610 2020
27
Facet Inclinations and Interfacet Angle of the Distal Radius on Posteroanterior Radiographs. 61
31126812 2020
28
Quantitative three-dimensional assessment of Madelung deformity. 61
31550979 2019
29
Bilateral Madelung Wrist Deformity in a 13-Year-Old Girl: Surgical Correction With the Taylor Spatial Frame External Fixation System. 61
31875195 2019
30
Surgical Management of Madelung Deformity: A Systematic Review. 61
30102073 2019
31
MRI appearance of the anomalous volar radiotriquetral ligament in true Madelung deformity. 61
30341713 2019
32
[Inverse hemicallotasis to correct a pronounced Madelung deformity]. 61
31167284 2019
33
Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis. 61
30529377 2019
34
Gymnast's wrist in a 12-year-old female with MRI correlation. 61
30581523 2019
35
Ulnar focal cortical indentation: a progressive, deforming variant of focal fibrocartilaginous dysplasia. 61
30443667 2019
36
Treatment of Madelung Deformity With Vicker Ligament Release and Radial Physiolyses: A Case Series. 61
29934079 2019
37
Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects. 61
32344414 2019
38
SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics. 61
30332396 2018
39
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene. 61
30250174 2018
40
How Reliable is the Radiographic Diagnosis of Mild Madelung Deformity? 61
29922499 2018
41
Lunate Grafting Into the Radius for Lunate Fossa Reconstruction in Madelung Deformity. 61
29510891 2018
42
Clinical image of bilateral Madelung deformity. 61
26403804 2018
43
Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report. 61
29469136 2018
44
[Clinical and molecular study in a family with multiple osteochondromatosis]. 61
30182558 2018
45
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester. 61
29330548 2018
46
Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis. 61
29692759 2018
47
Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences. 61
26840275 2018
48
Response to: Madelung deformity. 61
28416147 2018
49
Open Wedge Osteotomy with Ulnar Shortening for Madelung Deformity Using a Computer-Generated Template. 61
29117834 2017
50
[Progress on research of Madelung's deformity]. 61
29457425 2017

Variations for Madelung Deformity

Expression for Madelung Deformity

Search GEO for disease gene expression data for Madelung Deformity.

Pathways for Madelung Deformity

GO Terms for Madelung Deformity

Biological processes related to Madelung Deformity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 SHOX GNAS

Sources for Madelung Deformity

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
Content
Loading form....