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Isolated trigonocephaly

2 OMIM references -
2 associated genes
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

Isolated trigonocephaly

Pfeiffer syndrome type 1

FGFR1	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
FREM1	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)


COMMON GENES	FGFR1

Citations in the biomedical literature:

Isolated trigonocephaly		Pfeiffer syndrome type 1
	Synonym(s): - Non-syndromic metopic craniosynostosis		Synonym(s): - Classic Pfeiffer syndrome

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

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


COMMON SIGNS	- Autosomal dominant inheritance

Isolated trigonocephaly		Pfeiffer syndrome type 1
	Very frequent - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos		Very frequent - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - High forehead - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Low set ears / posteriorly rotated ears - Proptosis / exophthalmos - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius