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Microphthalmia, Lenz type

Disease definition

A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


Classification level: Disorder
  • Synonym(s):
    • Lenz microphthalmia
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q11.2
  • ICD-11: LD21.0
  • OMIM: 300166  309800
  • UMLS: C0796016
  • MeSH: C537464
  • GARD: 87
  • MedDRA: -

Detailed information


Disease review articles

Genetic Testing

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