Madelung Deformity

A hereditary osteochondrodysplasia affecting the wrist and forearm, including the distal RADIUS; ULNA; and proximal CARPAL BONES. It commonly occurs in Leri-Weill dyschondrosteosis (OMIM: 127300), which is associated with mutations in the SHOX gene located on the pseudoautosomal region of the X and Y chrosomosmes; thus, inheritance is autosomal dominant.

Networked: 30 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Congenital Abnormalities (Deformity)
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Osteochondromatosis
4.	Polydactyly (Polydactylism)
5.	Turner Syndrome (Turner's Syndrome)

Experts

1.	Bae, Donald S: 2 articles (01/2018 - 04/2016)
2.	Waters, Peter M: 2 articles (01/2018 - 04/2016)
3.	Murase, Tsuyoshi: 2 articles (12/2017 - 10/2013)
4.	Matsuo, N: 2 articles (06/2001 - 01/2001)
5.	Ogata, T: 2 articles (06/2001 - 01/2001)
6.	Horii, Emiko: 1 article (06/2022)
7.	Koh, Shukuki: 1 article (06/2022)
8.	Sugiura, Hirotaka: 1 article (06/2022)
9.	Adani, Roberto: 1 article (04/2022)
10.	Garagnani, Lorenzo: 1 article (04/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Madelung Deformity:

1.	Transcription Factors (Transcription Factor)IBA 01/01/2018 - "Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. "
2.	Growth Hormone (Somatotropin)IBA 08/01/2012 - "The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal. "
3.	Estrogens (Estrogen)FDA Link 12/01/2002 - "Rare Turner skeletal features such as Madelung deformity and Léri-Weill dyschondrosteosis are primarily facilitated by the bone-maturing effect of gonadal estrogens. "
4.	Dihydrotachysterol (AT 10)IBA 01/01/2005 - "Madelung deformity was obvious at 10 yr old, when menarche occurred. "
5.	Opioid Analgesics (Opioids)IBA 01/01/2007 - "We submit a case of velocardiofacial syndrome and Madelung deformity of the wrists presenting with hallucinatory phenomena associated with opioid exposure. "
6.	2,5-dichloro-4-bromophenol (B 2)IBA 01/01/2018 - "The highest possible agreement (κ=1) was seen for the following diagnoses: congenital dislocation of radial head (OMT I.A.2.v), Madelung deformity (I.A.2.vii), radial polydactyly (I.B.2.iii), triphalangeal thumb (I.B.2.iv), Kirner deformity (I.B.4.vi), and osteochondromatosis (3.B.4.i). "
7.	dimemorfan (AT 17)IBA 06/01/2001 - "At 17 years of age, she had short stature (-4.1 SD), bilateral cubitus valgus, Madelung deformity, and full breast development. "

Therapies and Procedures

1.	Osteotomy 07/03/2013 - "The purpose of this study was to evaluate long-term results in patients treated by volar ligament release and distal radial dome osteotomy for Madelung deformity. " 07/15/2023 - "To investigate the effectiveness of sequential plate internal fixation in the correction of Madelung deformity after ulnar osteotomy and shortening. " 07/15/2023 - "[Analysis of the effectiveness of sequential plate internal fixation in correction of Madelung deformity after ulnar osteotomy and shortening]." 02/09/2023 - "All patients who underwent forearm osteotomies for Madelung deformity using computed tomography planning with 3-dimensional-printed customized cutting guides were retrospectively reviewed (n = 8). " 01/01/2023 - "We report a case of an 11-year-old girl with bilateral severe Madelung deformity who underwent radial osteotomy with callus distraction. "
2.	Arthrodesis 01/01/2023 - "Madelung Deformity: Radioscapholunate Arthrodesis With a Neo-DRUJ." 01/01/2023 - "In this study, we describe a radioscapholunate (RSL) arthrodesis with a neo-distal radioulnar joint (DRUJ) in Madelung deformity patients with an abnormal sigmoid notch and compare results to patients after a reverse wedge osteotomy. " 01/01/1996 - "From 1982 to 1991, 15 patients ranging from 16 to 23 years old, suffering from Madelung deformity were operated by the Sauvé-Kapandji surgical technique (a pseudarthrosis is created on the ulna and an arthrodesis on the distal radio ulnar joint). "
3.	Therapeutics 10/01/2001 - "Madelung deformity: clinical features, therapy and results." 01/01/2001 - "Thus, identification of early or mild signs of Madelung deformity is pivotal for the diagnosis, and gonadal suppression therapy may serve to mitigate the clinical features. " 06/01/2001 - "The results suggest that GH therapy may have variable statural effects in SHOX haploinsufficiency as in most disorders including Turner syndrome, and that GnRHa therapy after pubertal entry may be insufficient to prevent the development of skeletal lesions such as Madelung deformity."
4.	Ilizarov Technique 08/01/2000 - "Madelung deformity treated with Ilizarov technique: a report of two cases."
5.	Operative Surgical Procedures 04/01/2022 - "A retrospective review of children affected by 'distal radius' Madelung deformity and treated with a standardized surgical procedure (modified reverse dome osteotomy of the distal radius and volar fixation with a small locking plate) between 2010 and 2018 at a single center was performed. "