Orphanet: Colobomatous microphthalmia
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Colobomatous microphthalmia

Disease definition

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

ORPHA:98938

Classification level: Disorder
  • Synonym(s):
    • MAC
    • Microphthalmia with colobomatous cyst
    • Microphthalmia-anophthalmia-coloboma syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q11.2
  • OMIM: 251505  300345  601186  605738  610092  611638  613703  614497  615145  616428
  • UMLS: C2931501
  • MeSH: -
  • GARD: 3644
  • MedDRA: -

  A summary on this disease is available in Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

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.