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Multiple epiphyseal dysplasia

Congenital Malformations and Chromosomal Abnormalities

Multiple epiphyseal dysplasia, abbreviated MED and also called Fairbank disease, is a rare genetic disorder that affects the growing ends of the bones. The dominant form is reported in about one in ten thousand births. Long bones normally lengthen as cartilage expands in the growth plate near each end, and that cartilage then mineralizes and hardens into bone in a process called ossification. In this condition the ossification process is defective, so the epiphyses, the rounded ends of the long bones, do not develop normally. The lead describes both a dominant form and the disorder as a whole as inherited, which places it among the genetic skeletal dysplasias.

Facts
Classification
Body System
Skeletal System 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 3
Sources
1. Multiple epiphyseal dysplasia (Wikipedia)
  • Lead, first sentence
    that affects the growing ends of bones
  • Lead, first sentence [causative-agent-category]
    is a rare genetic disorder
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2. MedlinePlus Genetics (National Library of Medicine): Multiple epiphyseal dysplasia - MedlinePlus Genetics
MedlinePlus Genetics (National Library of Medicine)
  • Causes
    Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia.
  • Description and Inheritance
    Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia.
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3. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:251
Quote, ORPHA:251
Point prevalence Value and class 1-9 / 100 000
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