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Oculotrichoanal syndrome

Disease definition

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.


Classification level: Disorder
  • Synonym(s):
    • MOTA syndrome
    • Manitoba oculotrichoanal syndrome
    • Marles syndrome
    • Marles-Greenberg-Persaud syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 248450
  • UMLS: C1855425
  • MeSH: -
  • GARD: 3395
  • MedDRA: -

Detailed information


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