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Genetic Disorders
MDP Syndrome
3 Sites
A very rare genetic disease characterised by mandibular hypoplasia, deafness, progeroid features.
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Gene mutation means paracyclist has no fat under skin
- The BBC reports on budding Paralympic cyclist Tom Staniford, who has an extremely rare condition that means he is unable to store fat under his skin.
A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism
- Shastry et al give the first formal characterisation of MDP syndrome.
MDP syndrome - Wikipedia
- Very concisely, the free encyclopaedia gives links to some sources about MDP syndrome.
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