The following testing regime has been recommended by the European Skeletal Dysplasia Network:
Level 1: COMP (exons 10–15) and MATN3 (exon 2)
Level 2: COMP (exons 8 & 9 and 16–19)
Level 3: COL9A1 (exon 8), COL9A2 and COL9A3 (exon 3)All those genes are involved in the production of the extracellular matrix (ECM). The role of COMP gene remains unclear. It is a noncollagenous protein of the ECM. Mutations in this gene can cause the pseudoachondroplasia (PSACH). It should play a role in the structural integrity of cartilage by its interaction with other extracellular matrix proteins and can be part of the interaction of the chondrocytes with the matrix and it is also a potent suppressor of apoptosis in chondrocytes. Another role is maintaining a vascular smooth muscle cells contractile under physiological or pathological stimuli.Since 2003, the European Skeletal Dysplasia Network has used an online system to diagnose cases referred to the network before mutation analysis to study the mutations causing PSACH or MED.COL9A1, COL9A2, COL9A3 are genes coding for collagen type IX, that is a component of hyaline cartilage. MATN3 protein may play a role in the formation of the extracellular filamentous networks and in the development and homeostasis of cartilage and bone.In the recessive form, the DTDST gene, also known as SLC26A2, is mutated in almost 90% of the patients, causing diastrophic dysplasia. It is a sulfate transporter, transmembrane glycoprotein implicated in several chondrodysplasias. It is important for sulfation of proteoglycans and matrix organization.
In this work, the researchers suggest to the pediatric doctor to perform x-rays before starting the neurological assessment, to exclude the dysplasia.COL91A mutation was discovered in 2001. Culture
Prominent people with this condition
Danny DeVito, American actor, producer, and director
Robert Reich, former United States Secretary of Labor under President Bill Clinton from 1993 to 1997
David Wetherill, British Paralympian table tennis athlete

References
External links
GeneReview/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
GeneReview/NIH/UW entry on Multiple Epiphyseal Dysplasia, Recessive