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Oculotrichoanal syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
10 signs/symptoms
Disease Type of connection
BNAR syndrome
Congenital diaphragmatic hernia
Isolated trigonocephaly
Synonym(s):
- MOTA syndrome
- Manitoba oculotrichoanal syndrome
- Marles syndrome
- Marles-Greenberg-Persaud syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FREM1 Q5H8C1608944
Very frequent
- Abnormal implantation of hair
- Autosomal recessive inheritance
- Coloboma of the eyelid
- Hypertelorism

Frequent
- Anus ectopia / anteposition / malposition
- Anus / rectum anomalies
- Defect / anomaly of lacrimal system

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Bifid tip / cleft nose / supernumerary nose
- Cryptophthalmia / ankyloblepharon / synblepharon