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Matthew-Wood syndrome

Disease definition

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

ORPHA:2470

Classification level: Disorder
  • Synonym(s):
    • Anophthalmia-pulmonary hypoplasia syndrome
    • MCOPS9
    • Syndromic microphthalmia type 9
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q11.2
  • OMIM: 601186  615524
  • UMLS: C1832661
  • MeSH: -
  • GARD: 713
  • MedDRA: -

Detailed information

Professionals

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.