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MDP syndrome

 

What is MDP syndrome?
Mandibular hypoplasia-deafness-progeroid syndrome is a very rare, genetic, premature aging disease. 

Signs and symptoms
MDP is characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.

Children with MDP syndrome
The most common age that symptoms appear is between 2-11 years.

Diagnosis of MDP syndrome
It is only known to affect a very small number of people worldwide – less than 12 cases have been diagnosed as of December 2014.

Sources and useful links:
GARD – Genetic and Rare Diseases Information Center 
Orphanet

 

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