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Isolated trigonocephaly

2 OMIM references -
2 associated genes
7 signs/symptoms

COMMON GENES: 1

Oculotrichoanal syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

Isolated trigonocephaly

Oculotrichoanal syndrome

FGFR1	(UniProt - OMIM)		FREM1	(UniProt - OMIM)
FREM1	(UniProt - OMIM)


COMMON GENES	FREM1

Citations in the biomedical literature:

Isolated trigonocephaly		Oculotrichoanal syndrome
	Synonym(s): - Non-syndromic metopic craniosynostosis		Synonym(s): - MOTA syndrome - Manitoba oculotrichoanal syndrome - Marles syndrome - Marles-Greenberg-Persaud syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Isolated trigonocephaly		Oculotrichoanal syndrome
	Very frequent - Autosomal dominant inheritance - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos		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