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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.

ORPHA:2717

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: -

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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.