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 known to affect only a very small number of people worldwide, with fewer than 12 cases diagnosed as of December 2014. Research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which leaves an enzyme that is crucial to DNA replication defective. The full name points to the jaw abnormality, hearing loss and premature-ageing features that define the condition, and the small number of known cases means that its description rests on very limited clinical experience.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. MDP syndrome (Wikipedia)
Lead paragraph
it may be caused by an abnormality of the POLD1 gene on chromosome 19
lead sentence 1
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.
Lead
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.
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