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Mandibular hypoplasia-deafness-progeroid syndrome

Disease definition

Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease 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.

ORPHA:363649

  • Synonym(s):
    • MDP syndrome
    • Mandibular hypoplasia-hearing loss-progeroid syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: E34.8
  • OMIM: 615381
  • UMLS: -
  • MeSH: -
  • GARD: 10989
  • MedDRA: -

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