ODCs

Cytoscape Web

Click node...

Isolated trigonocephaly

2 OMIM references -
2 associated genes
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Osteoglophonic dwarfism

1 OMIM reference -
1 associated gene
20 signs/symptoms

Isolated trigonocephaly

Osteoglophonic dwarfism

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


COMMON GENES	FGFR1

Citations in the biomedical literature:

Isolated trigonocephaly		Osteoglophonic dwarfism
	Synonym(s): - Non-syndromic metopic craniosynostosis		Synonym(s): (no synonyms)

	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 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: 1 OMIM reference - 1 MeSH reference: C536050


COMMON SIGNS	- Autosomal dominant inheritance

Isolated trigonocephaly		Osteoglophonic dwarfism
	Very frequent - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos		Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes