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Mesomelia-synostoses syndrome

Disease definition

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

ORPHA:2496

  • Synonym(s):
    • 8q13 microdeletion syndrome
    • Del(8)q(13)
    • Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
    • Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
    • Monosomy 8q13
    • Verloes-David syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.8
  • OMIM: 600383
  • UMLS: C1838162
  • MeSH: -
  • GARD: 4302
  • MedDRA: -

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