Oculotrichoanal syndrome

Orpha code: 2717OMIM code: 248450

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.

Disease data
Classification

Malformation syndrome

Synonyms
MOTA syndrome
Zespół Marlesa
Zespół Marlesa, Greenberga i Persauda
Zespół MOTA
Zespół oczno-włosowo-odbytowy Manitoba
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
ORPHA code
2717
OMIM code
248450
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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