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Matthew-Wood syndrome

Disease definition

A rare, genetic congenital malformation syndrome characterized by bilateral anopthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.

ORPHA:2470

Classification level: Disorder
  • Synonym(s):
    • Anophthalmia-pulmonary hypoplasia syndrome
    • PDAC syndrome
    • Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
    • Spear syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q11.2
  • ICD-11: LD21.0
  • OMIM: 601186  615524
  • UMLS: C1832661
  • MeSH: C537768
  • GARD: 713
  • MedDRA: -

  A summary on this disease is available in Español (2023) Nederlands (2023) Français (2006) Italiano (2006) Deutsch (2004)

Detailed information

Guidelines

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.