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Multiple Epiphyseal Dysplasia
Synonyms: MED
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Source/Author: Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG.
Abstract
Discussion of the form of MED that has mutations in the matrilin (MATN)3 gene.
COMP mutations, chondrocyte function and cartilage matrix.
Source/Author: Hecht JT, Hayes E, Haynes R, Cole WG.
Abstract
Overview of the conditions - MED and pseudoachondroplasia - that are caused by mutations in the COMP gene.
Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.
Source/Author: Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
Abstract
Overview of this orthopedic condition in multiple skeletal dysplasias
Full text article available by contacting [email protected]
Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis.
Source/Author: Treble NJ, Jensen FO, Bankier A, Rogers JG, Cole WG., Royal Children's Hospital, Melbourne, Victoria, Australia.
Natural history of hip problems in MED
Epiphyseal dysplasia multiple
Source/Author: M. le Merrer, M.D.; Orphanet
Web-based (medical)
Brief overview of the condition, scientific citations, clinical features and other web sites.
Epiphyseal dysplasia, multiple
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and links to articles on MED.
Epiphyseal Dysplasia, Multiple, 1
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of MED, type I, with emphasis on the genetics of the condition
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of MED, type 2, with emphasis on the genetics of the condition
Epiphyseal dysplasia, multiple, 2
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and link to article on MED(2)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of MED, type 3, with emphasis on the genetics of the condition
Epiphyseal dysplasia, multiple, 3
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and links to articles on MED.
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of MED, type 4, with emphasis on the genetics of the condition
Epiphyseal dysplasia, multiple, 4
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays, photographs and links to journal articles
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of MED, type 5, with emphasis on the genetics of the condition
Epiphyseal dysplasia, multiple, 5
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and link to article on MED caused by mutations in the matrilin gene (MATN3).
Epiphyseal dysplasia, multiple, COL9A1-related
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and link to article on MED caused by mutations in the COL9 gene.
Impairment and activity limitation associated with epiphyseal dysplasia in children.
Source/Author: Damignani R, Young N, Cole WG, Anthony AM, Badley EM
Abstract
Medical journal article on the level of physical limitations experienced by children with MED and spondyloepiphyseal dysplasia.
Full text article available by contacting [email protected]
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
Source/Author: Lachman RS, Krakow D, Cohn DH, Rimoin DL.
Abstract
Overview of the various genes that cause MED.
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
Source/Author: Varanavicharn, Lachman RS, Rimoin DL
Abstract
Medical journal article on a specific radiographic finding in multiple epiphyseal dysplasia and pseudoachondroplasia.
Full text article available by contacting [email protected]
Multiple Epiphyseal Dysplasia
Source/Author: National Organization of Rare Diseases
Web-based (medical)
Brief description of the clinical features/characteristics, medical complications and genetics of this condition.
MULTIPLE EPIPHYSEAL DYSPLASIA
Source/Author: CHUN LI, M.D. Research Fellow, Orthopaedic Surgeon; ROBERT P. STANTON, M.D. Attending, Pediatric Orthopaedic Surgeon
Web-based (medical)
CLINICAL CASE PRESENTATION ORTHOPAEDIC DEPARTMENT THE ALFRED I. DUPONT INSTITUTE WILMINGTON, DELAWARE With X-rays Some of the information is specific to the patient and may not apply to everyone with this condition
MULTIPLE EPIPHYSEAL DYSPLASIA
Source/Author: Peter J. Curcione, D.O., Resident, Orthopaedic Surgery; Robert P. Stanton, M.D., Attending, Pediatric Orthopaedic Surgery
Web-based (medical)
CLINICAL CASE PRESENTATION ORTHOPAEDIC DEPARTMENT THE ALFRED I. DUPONT INSTITUTE WILMINGTON, DELAWARE With X-rays Some of the information is specific to the patient and may not apply to everyone with this condition.
Multiple Epiphyseal Dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.
Multiple Epiphyseal Dysplasia (MED)
Source/Author: Pediatric Orthopaedic Society of North America.
Web-based (medical)
Discussion of MED with the focus on clinical and orthopedic issues.
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Source/Author: Unger S, Bonafe L, Superti-Furga A
Abstract
Medical journal review article on MED
Full text article available by contacting [email protected]
Multiple Epiphyseal Dysplasia (MED) and Pseudoachondroplasia
Source/Author: Michelle Connors
Web-based (lay)
Detailed description of symptoms, genetics and living with MED by a patient with the condition.
Multiple epiphyseal dysplasia in children: beware of overtreatment!
Source/Author: Bajuifer S, Letts M.; Division of Pediatric Orthopaedics, Children's Hospital of Eastern Ontario, University of Ottawa
Web-based (medical)
Article on orthopedic management of MED.
Multiple Epiphyseal Dysplasia, Dominant
Source/Author: Michael D Briggs, PhD, Michael J Wright, MD, MRCP, Geert R Mortier, MD, PhD; GeneReviews
Medical Review
Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources
Multiple Epiphyseal Dysplasia, Recessive
Source/Author: Luisa Bonafé, MD, PhD, Lauréane Mittaz-Crettol, PhD, Diana Ballhausen, MD, and Andrea Superti-Furga, MD; GeneReviews
Medical Review
Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources
Multiple epiphyseal dysplasia in one family. A further review of seven generations.
Source/Author: Amir D, Mogle P, Weinberg H.
Full text
Review of a seven generation family with 45 individuals affected with MED.
Natural History: Multiple Epiphyseal Dysplasia
Source/Author: Richard M Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with pseudoachondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.
Source/Author: Langer LO Jr, Schaefer GB, Wadsworth DT.
Abstract
Case report of a patient with achondroplasia and pseudoachondroplasia. Also discussed the relationship between pseudoachondroplasia and MED, Fairbank type.
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and
Source/Author: Briggs MD, Chapman KL. Hum Mutat. 2002 May;19(5):465-78.
Abstract
Discussion of the gene mutations that cause MED and pseudoachondroplasia and the variability in clinical features that are seen.
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Source/Author: Unger S, Hecht JT. Am J Med Genet. 2001 Winter;106(4):244-50.
Abstract
Discussion of the genetic etiology of MED and pseudoachondroplasia.
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Source/Author: Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti
Furga A
Full text
Medical journal article on the discovery of an additional gene mutation that causes MED with myopathy (muscle weakness).
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