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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

Classification level: Disorder
  • 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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.