Series 3 Episode 15: Tom Staniford. MDP syndrome

Released 29 April 2025

Tom Staniford talks about living with the MDP syndrome, an ultra-rare genetic condition. MDP syndrome includes Mandibula hypoplasia, Deafness, and Progeroid features amongst its widespread manifestations. Tom developed Type 2 diabetes as a teenager because of a loss of fat under the skin (lipodystrophy) despite being very thin and active. Tom has used his communication and media skills to help other people with MDP syndrome get diagnosed and receive the right care.

Tom Staniford

Tom Staniford is a chartered marketer and works as a head of marketing with many high-profile clients. He has a master’s degrees in European law from both University of Renne and the University of Exeter and a further master’s in psychology. He lectures at the Exeter business school.

He has excelled at cycling. After recovering from a head-on car crash, he had a very successful career cycling for Great Britain cumulating in becoming the 2011 National Para-cycling Circuit Race Champion. Details of this are here: https://en.wikipedia.org/wiki/Tom_Staniford

Tom has played a major role helping other people with MDP syndrome and other rare genetic conditions. He allowed his photograph, with contact details, to be widely distributed through social and conventional media resulting in his picture being seen by millions of people throughout the world. As a result, many patients who shared his distinctive appearance contacted him and were diagnosed. This approach identified more people than the conventional medical route of publishing in a top journal and disseminating through medical education. He also runs a facebook page for patients and their families that provides information and support (see below).

Tom has found it increasingly difficult to weight bear on his legs and bravely decided that the best course of action was to amputate his legs. He held a “farewell to my legs” cycling event on 27th April 2025 just before his first amputation. This has already raised over £11,000 for 4 charities close to Tom’s heart.

Donations can still be made up to the end of May 2025. Please go here to donate: https://www.justgiving.com/crowdfunding/goodbye-legs

MDP syndrome

MDP syndrome is very rare with probably less than 50 cases worldwide. The early features are the small jaw (Mandibular hypoplasia), progressive Deafness, and a loss of subcutaneous fat giving the appearance of early aging (Progeroid Features). The loss of subcutaneous fat (lipodystrophy) results in increased intrabdominal fat and marked insulin resistance which can lead to the development of Type 2 diabetes at a young age. The long tendons throughout the body become fibrotic and tight resulting in distortions of the feet and hands.

The genetic cause of MDP syndrome is a single change in the POLD1 gene. The was discovered by Mike Weedon in the Exeter genetics laboratory. Finding the gene now allows a firm diagnosis to be made by genetic testing.

Short BBC film about Tom, MDP syndrome and his problem with lacking fat is available here: https://youtu.be/yVWPVbYPiDo

More details about the MDP syndrome are available here: https://en.wikipedia.org/wiki/MDP_syndrome

The facebook page for patients and their families is found by searching within facebook for the “MDP/MDPL Syndrome support group”. It is a private facebook group.