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Pectus excavatum-macrocephaly-dysplastic nails syndrome

Disease definition

Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.

ORPHA:2835

  • Synonym(s):
    • Zori-Stalker-Williams syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 600399
  • UMLS: C2931302
  • MeSH: -
  • GARD: 374
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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