Orphanet: Colobomatous microphthalmia

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Colobomatous microphthalmia

Disease definition

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


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: -

Detailed information


Disease review articles

Genetic Testing

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