What is Multiple Epiphyseal Dysplasia?
- A form of dwarfism
- Affects cartilage and bone development primarily the long bones (epiphyses)
- Average height of an adult is between 145cm and 170cm
- Two types of MED distinguished by pattern of inheritance: Dominant MED and Recessive MED
- Incidence differs between the two types of MED -
- Dominant MED: 1 in 10,000
- Recessive MED: incidence unknown
- Mutation differs between the two types of MED
- Dominant MED: COMP, COL9A1, COL9A2, COL9A3 and MATN3
- Recessive MED: DTDST (SLC26A2)
Diagnosis of Multiple Epiphyseal Dysplasia
- Before birth by:
- Testing methods e.g. DNA linkage studies, if expected due to parentage.
- After birth by:
- Observation of common physical characteristics
- X-rays
What are common characteristics of Multiple Epiphyseal Dysplasia?
- Mild short stature
- Limbs are mildly shorter in relation to trunk
- Joint pain and early on set arthritis
- Waddling gait
- Flat feet
- Curvature of the spine (Scoliosis)
- club foot (recessive form of MED)
- cleft palate (recessive form of MED)
- inward curving fingers (recessive form of MED)
*Please be aware, not all of the characteristics may be present*
Other information about Multiple Epiphyseal Dysplasia
- Life expectancy is not affected
- Intelligence is not affected
- Can affect boys and girls equally
Genetics of Multiple Epiphyseal Dysplasia
- Autosomal dominant pattern
- If there is no history of MED in the family, MED can be passed on by one parent (dominant) as the result of a mutation
- Autosomal recessive pattern
- Passed on by both parents (recessive) as a result of a mutation
Additional reading about Multiple Epiphyseal Dysplasia
- National Organisation of Rare Disorders
- Genetics Home Reference - Multiple Epiphyseal Dysplasia
- Nemours
- LPA Online - Multiple Epiphyseal Dysplasia
- Kids Health
- Understanding Dwarfism
Forums for supporting people with Multiple Epiphyseal Dysplasia
*Little People UK are not responsible for external website*