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Singleton-Merten dysplasia

Disease definition

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

ORPHA:85191

Classification level: Disorder
  • Synonym(s):
    • Singleton-Merten syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q78.8
  • OMIM: 182250  616298
  • UMLS: C0432254
  • MeSH: -
  • GARD: 122
  • MedDRA: -
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