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
Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band 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
View the Source2. 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.
View the Source 3. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:251Quote, ORPHA:251
Point prevalence Value and class 1-9 / 100 000
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