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Melnick-Needles syndrome

Disease definition

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

ORPHA:2484

  • Synonym(s):
    • Melnick-Needles osteodysplasty
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q77.8
  • OMIM: 309350
  • UMLS: C0025237
  • MeSH: -
  • GARD: 7011
  • MedDRA: 10060908

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