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Oculotrichoanal syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Oculotrichoanal syndrome

BNAR syndrome

FREM1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FREM1

Citations in the biomedical literature:

Oculotrichoanal syndrome		BNAR syndrome
	Synonym(s): - MOTA syndrome - Manitoba oculotrichoanal syndrome - Marles syndrome - Marles-Greenberg-Persaud syndrome		Synonym(s): - Bifid nose with or without anorectal and renal anomalies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Oculotrichoanal syndrome
	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
BNAR syndrome
(no data available)