Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
7 signs/symptoms
COMMON GENES: 1
4 OMIM references -
3 associated genes
1 sign/symptom
Isolated trigonocephaly
Congenital diaphragmatic hernia

FGFR1 FREM1
FREM1 GATA6
ZFPM2


COMMON
GENES
FREM1



Citations in the biomedical literature:


Isolated trigonocephaly
FGFR1 FREM1
Congenital diaphragmatic hernia
GATA6 ZFPM2



Isolated trigonocephaly
Congenital diaphragmatic hernia

Synonym(s):
- Non-syndromic metopic craniosynostosis

Synonym(s):
- CDH
- Diaphragmatic agenesia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare respiratory disease
- Rare surgical thoracic 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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: multigenic/multifactorial

External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: C538080

Isolated trigonocephaly
Congenital diaphragmatic hernia

Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

Frequent
- Broad nasal root
- Hypotelorism
- Prominent supraorbital ridge
- Synophris / synophrys

Occasional
- Omphalocele / exomphalos


Very frequent
- Diaphragmatic hernia / defect / agenesis