Aliases & Classifications for Madelung Deformity

MalaCards integrated aliases for Madelung Deformity:

Name: Madelung Deformity 53 29
Madelungs Deformity 55

Classifications:



Summaries for Madelung Deformity

NIH Rare Diseases : 53 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 madelung deformity, bilateral and madelung deformity, unilateral. An important gene associated with Madelung Deformity is SHOX (Short Stature Homeobox). Affiliated tissues include bone, and related phenotypes are nephropathy and abnormality of the carpal bones

Wikipedia : 76 Madelung\'s deformity is usually characterized by malformed wrists and wrist bones and is often... more...

Related Diseases for Madelung Deformity

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

# Related Disease Score Top Affiliating Genes
1 madelung deformity, bilateral 12.1
2 madelung deformity, unilateral 12.1
3 leri-weill dyschondrosteosis 11.8
4 langer mesomelic dysplasia 11.3
5 dyschondrosteosis and nephritis 11.0
6 exostoses, multiple, type i 11.0
7 trigger thumb 9.9
8 von willebrand's disease 9.9

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



Diseases related to Madelung Deformity

Symptoms & Phenotypes for Madelung Deformity

Human phenotypes related to Madelung Deformity:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nephropathy 32 occasional (7.5%) HP:0000112
2 abnormality of the carpal bones 32 hallmark (90%) HP:0001191
3 joint dislocation 32 hallmark (90%) HP:0001373
4 scoliosis 32 frequent (33%) HP:0002650
5 bone pain 32 hallmark (90%) HP:0002653
6 osteoarthritis 32 frequent (33%) HP:0002758
7 multiple exostoses 32 frequent (33%) HP:0002762
8 arthralgia 32 hallmark (90%) HP:0002829
9 tibial bowing 32 occasional (7.5%) HP:0002982
10 micromelia 32 occasional (7.5%) HP:0002983
11 hypoplasia of the radius 32 hallmark (90%) HP:0002984
12 radial bowing 32 hallmark (90%) HP:0002986
13 limited elbow movement 32 hallmark (90%) HP:0002996
14 mesomelia 32 occasional (7.5%) HP:0003027
15 madelung deformity 32 hallmark (90%) HP:0003067
16 long ulna 32 hallmark (90%) HP:0003988
17 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
18 limited wrist movement 32 hallmark (90%) HP:0006248
19 dorsal subluxation of ulna 32 hallmark (90%) HP:0006459
20 disproportionate short-limb short stature 32 frequent (33%) HP:0008873
21 type c brachydactyly 32 occasional (7.5%) HP:0009373
22 abnormality of the humeroulnar joint 32 hallmark (90%) HP:0100745

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

MalaCards organs/tissues related to Madelung Deformity:

41
Bone

Publications for Madelung Deformity

Articles related to Madelung Deformity:

(show all 28)
# Title Authors Year
1
Treatment of Madelung Deformity With Vicker Ligament Release and Radial Physiolyses: A Case Series. ( 29934079 )
2018
2
How Reliable is the Radiographic Diagnosis of Mild Madelung Deformity? ( 29922499 )
2018
3
Lunate Grafting Into the Radius for Lunate Fossa Reconstruction in Madelung Deformity. ( 29510891 )
2018
4
Open Wedge Osteotomy with Ulnar Shortening for Madelung Deformity Using a Computer-Generated Template. ( 29117834 )
2017
5
Surgical Treatment of a Rare "Reverse" Madelung Deformity in 11 Years Female Patient. ( 28266297 )
2017
6
Response to: Madelung deformity. ( 28416147 )
2017
7
Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease. ( 26639996 )
2016
8
Madelung Deformity. ( 27602178 )
2016
9
Madelung Deformity and Extensor Tendon Rupture. ( 26161772 )
2015
10
Inter- and intrarater reliability of ulna variance versus lunate subsidence measurements in Madelung deformity. ( 25300989 )
2015
11
Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. ( 26135644 )
2015
12
Radiographic Criteria for Undergoing an Ulnar Shortening Osteotomy in Madelung Deformity: A Long-term Experience From a Single Institution. ( 25757208 )
2015
13
Clinical image of bilateral Madelung deformity. ( 26403804 )
2015
14
Madelung Deformity. ( 26341718 )
2015
15
Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. ( 25572239 )
2014
16
Volar ligament release and distal radial dome osteotomy for the correction of Madelung deformity: long-term follow-up. ( 23824388 )
2013
17
Madelung deformity. ( 23728962 )
2013
18
Cylindrical corrective osteotomy for Madelung deformity using a computer simulation: case report. ( 23993042 )
2013
19
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. ( 22461651 )
2012
20
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. ( 21910239 )
2011
21
Madelung deformity with Vickers ligament. ( 19455318 )
2009
22
Failure of differentiation: Part II (arthrogryposis, camptodactyly, clinodactyly, madelung deformity, trigger finger, and trigger thumb). ( 19380060 )
2009
23
Madelung deformity with prior distal radius fracture: a case report. ( 17643150 )
2007
24
Reverse Madelung deformity. ( 15847031 )
2005
25
Madelung deformity. ( 16375003 )
2005
26
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. ( 12362035 )
2002
27
Madelung Deformity in a Collegiate Gymnast: A Case Report. ( 12937458 )
2001
28
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. ( 11735031 )
2001

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 GNAS SHOX

Sources for Madelung Deformity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
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45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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