MCID: MDL024
MIFTS: 28

Madelung Deformity

Categories: Bone diseases, Rare diseases

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 joint dislocation and osteoarthritis

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 12.3
2 madelung deformity, unilateral 12.3
3 leri-weill dyschondrosteosis 12.0
4 langer mesomelic dysplasia 11.4
5 dyschondrosteosis and nephritis 11.2
6 exostoses, multiple, type i 11.2
7 trigger thumb 10.0
8 von willebrand's disease 10.0

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

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 42)
# 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
Surgical Management of Madelung Deformity: A Systematic Review. ( 30102073 )
2018
5
SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics. ( 30332396 )
2018
6
MRI appearance of the anomalous volar radiotriquetral ligament in true Madelung deformity. ( 30341713 )
2018
7
Open Wedge Osteotomy with Ulnar Shortening for Madelung Deformity Using a Computer-Generated Template. ( 29117834 )
2017
8
Surgical Treatment of a Rare "Reverse" Madelung Deformity in 11 Years Female Patient. ( 28266297 )
2017
9
Response to: Madelung deformity. ( 28416147 )
2017
10
Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease. ( 26639996 )
2016
11
Madelung Deformity. ( 27602178 )
2016
12
Madelung Deformity and Extensor Tendon Rupture. ( 26161772 )
2015
13
Inter- and intrarater reliability of ulna variance versus lunate subsidence measurements in Madelung deformity. ( 25300989 )
2015
14
Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. ( 26135644 )
2015
15
Radiographic Criteria for Undergoing an Ulnar Shortening Osteotomy in Madelung Deformity: A Long-term Experience From a Single Institution. ( 25757208 )
2015
16
Clinical image of bilateral Madelung deformity. ( 26403804 )
2015
17
Madelung Deformity. ( 26341718 )
2015
18
Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. ( 25572239 )
2014
19
Volar ligament release and distal radial dome osteotomy for the correction of Madelung deformity: long-term follow-up. ( 23824388 )
2013
20
Madelung deformity. ( 23728962 )
2013
21
Cylindrical corrective osteotomy for Madelung deformity using a computer simulation: case report. ( 23993042 )
2013
22
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. ( 22461651 )
2012
23
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. ( 21910239 )
2011
24
Madelung deformity with Vickers ligament. ( 19455318 )
2009
25
Failure of differentiation: Part II (arthrogryposis, camptodactyly, clinodactyly, madelung deformity, trigger finger, and trigger thumb). ( 19380060 )
2009
26
Madelung deformity with prior distal radius fracture: a case report. ( 17643150 )
2007
27
Reverse Madelung deformity. ( 15847031 )
2005
28
Madelung deformity. ( 16375003 )
2005
29
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. ( 12362035 )
2002
30
Madelung Deformity in a Collegiate Gymnast: A Case Report. ( 12937458 )
2001
31
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. ( 11735031 )
2001
32
Madelung deformity: clinical features, therapy and results. ( 11727381 )
2001
33
Madelung deformity treated with Ilizarov technique: a report of two cases. ( 11058013 )
2000
34
Osteotomy of the radius and ulna for the Madelung deformity. ( 9768892 )
1998
35
Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? ( 9354843 )
1997
36
Madelung deformity as a feature of the Leri-Layani-Weill syndrome or dyschondrosteosis. ( 9479892 )
1997
37
Madelung deformity in skeletally immature patients: morphologic assessment using radiography, CT, and MRI. ( 8708046 )
1996
38
Madelung deformity--the hallmark of dyschondrosteosis. ( 8772892 )
1995
39
Madelung deformity: surgical prophylaxis (physiolysis) during the late growth period by resection of the dyschondrosteosis lesion. ( 1402266 )
1992
40
Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome. ( 1590977 )
1992
41
Madelung deformity. ( 3361203 )
1988
42
The Madelung deformity. ( 1205348 )
1975

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
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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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