MDP syndrome
MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide (less than 12 cases have been diagnosed as of December 2014). Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective.
| MDP syndrome | |
|---|---|
| Other names | Mandibular hypoplasia-deafness-progeroid syndrome |
| This condition is inherited in an autosomal dominant manner | |
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