Madelung deformity

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.



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Narrow down the case reports



Total: 34 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.2%)		 17028440
 Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
Shanske AL, Puri M, Marshall B, Saenger P.
Horm Res. 2007;67(2):61-6.
Tibial bowing Short metacarpal
SHOX
p|DEL|202|A rs137852552
Body Height Child Exons Females Gene Deletion Growth Disorders Homeodomain Proteins Homo sapiens Human Growth Hormone Male Osteochondrodysplasias Recombinant Proteins Short Stature Homeobox Protein
1
(48.2%)		 11523902
 Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.
Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold G.
Endocr J. 2001;48(3):317-22.
Cubitus valgus Short 4th metacarpal
SHOX
c|SUB|C|674|T
Body Height Bone Diseases Child Females Gene Deletion Growth Disorders Haplotypes Homeodomain Proteins Homo sapiens Human Growth Hormone Male Mutation Puberty Short Stature Homeobox Protein Y Chromosome
3
(45.7%)		 20681991
 Pseudoautosomal inheritance of Leri-Weill syndrome: what does it mean?
Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U.
Clin Genet. 2011;79(5):489-94.
Mesomelia
SHOX
Child, Preschool Females Fluorescent in Situ Hybridization Growth Disorders Homeodomain Proteins Homo sapiens Male Osteochondrodysplasias Short Stature Homeobox Protein
3
(45.7%)		 14636323
 An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.
Epilepsia. 2003;44(12):1529-35.
Mesomelia
ARSE ASMT SHOX STS VCX3A
Adult Child Child, Preschool Chromosome Banding Chromosome Breakage Chromosome Deletion Chromosomes, Human, X Chromosomes, Human, Y Developmental Disabilities Dwarfism Epilepsy, Generalized Fluorescent in Situ Hybridization Genetic Carrier Screening Genetic Markers Homo sapiens Ichthyosis, X-Linked Infant Infant, Newborn Male Nuclear Proteins Osteochondrodysplasias Phenotype Polymerase Chain Reaction Sex Chromosome Aberrations Sibling Syndrome
5
(41.0%)		 30443667
 Ulnar focal cortical indentation: a progressive, deforming variant of focal fibrocartilaginous dysplasia.
Goldbach AR, Zlotolow DA, Fenerty SD, Rapp J, Gershkovich G, Ali S.
Pediatr Radiol. 2019;49(2):187-195.
Radial bowing
Child, Preschool Disease Progression Females Fibrous Dysplasia, Monostotic Homo sapiens Infant Internal Fixators Male Osteotomy Retrospective Studies
6
(37.4%)		 29330548
 SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.
Ramachandrappa S, Kulkarni A, Gandhi H, Ellis C, Hutt R, Roberts L, Hamid R, Papageorghiou A, Mansour S.
Eur J Hum Genet. 2018;26(3):350-358.
Short long bone
SHOX
Adult Differential Diagnosis Females Fetal Diseases Growth Disorders Haploinsufficiency Homo sapiens Male Osteochondrodysplasias Phenotype Pregnancy Pregnancy Trimester, Second Pregnancy Trimester, Third Short Stature Homeobox Protein Ultrasonography, Prenatal
7
(35.3%)		 21910239
 Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
Rump P, Jongbloed JD, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB.
Am J Med Genet A. 2011;155A(10):2566-70.
Brachydactyly
GNAS
c|SUB|T|476|C p|SUB|V|159|A
Base Sequence Brachydactyly Chromogranins Females GTP-Binding Protein alpha Subunits, Gs Homo sapiens Missense Mutation Molecular Sequence Data Sequence Analysis, DNA Wrist
7
(35.3%)		 9024575
 Clinical and locus heterogeneity in brachydactyly type C.
Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, Morrison S.
Am J Med Genet. 1997;68(3):369-77.
Brachydactyly
rs74315386
Adult Aged, 80 and over Child Chromosome Deletion Chromosomes, Human, Pair 12 Congenital Foot Deformity Congenital Hand Deformities Females Heterozygote Homo sapiens Male Middle Aged
7
(35.3%)		 3588071
 A new syndrome with ocular, skeletal and renal involvement.
Cirillo Silengo M, Lopez Bell G, Biagioli M, Guala A, Porcellini G, Franceschini P.
Pediatr Radiol. 1987;17(3):238-41.
Nephropathy Brachydactyly
Adult Bone and Bones Females Fingers Homo sapiens Male Nephritis, Interstitial Retinitis Pigmentosa Syndrome Toes Vision Disorders
10
(33.8%)		 12937458
 Madelung Deformity in a Collegiate Gymnast: A Case Report.
Brooks TJ.
J Athl Train. 2001;36(2):170-173.
Abnormality of the wrist
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0001191 Abnormality of the carpal bones Very frequent (99-80%)
HP:0001373 Joint dislocation Very frequent (99-80%)
HP:0002653 Bone pain Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0002986 Radial bowing Very frequent (99-80%)
HP:0002996 Limited elbow movement Very frequent (99-80%)
HP:0003067 Madelung deformity Very frequent (99-80%)
HP:0003988 Long ulna Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006248 Limited wrist movement Very frequent (99-80%)
HP:0006459 Dorsal subluxation of ulna Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0100745 Abnormality of the humeroulnar joint Very frequent (99-80%)
HP:0000925 Abnormality of the vertebral column Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002758 Osteoarthritis Frequent (79-30%)
HP:0002762 Multiple exostoses Frequent (79-30%)
HP:0008873 Disproportionate short-limb short stature Frequent (79-30%)
HP:0000112 Nephropathy Occasional (29-5%)
HP:0002982 Tibial bowing Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0003027 Mesomelia Occasional (29-5%)
HP:0009373 Type C brachydactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 21

HPO ID Term # of case reports
HP:0004322 Short stature 16
HP:0001156 Brachydactyly 2
HP:0002652 Skeletal dysplasia 2
HP:0002967 Cubitus valgus 2
HP:0003027 Mesomelia 2
HP:0003498 Disproportionate short stature 2
HP:0008845 Mesomelic short stature 2
HP:0000112 Nephropathy 1
HP:0000132 Menorrhagia 1
HP:0000822 Hypertension 1
HP:0001159 Syndactyly 1
HP:0001369 Arthritis 1
HP:0001642 Pulmonic stenosis 1
HP:0001822 Hallux valgus 1
HP:0003019 Abnormality of the wrist 1
HP:0003502 Mild short stature 1
HP:0010044 Short 4th metacarpal 1
HP:0012532 Chronic pain 1
HP:0025269 Panic attack 1
HP:0030836 Wrist pain 1
HP:0100550 Tendon rupture 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID