Oculotrichoanal syndrome

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Synonyms: MOTA syndrome | Manitoba oculotrichoanal syndrome | Marles syndrome | Marles-Greenberg-Persaud syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Oculotrichoanal syndrome?

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