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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
7 signs/symptoms
Microform holoprosencephaly
Isolated trigonocephaly

CDON FGFR1
DISP1 FREM1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.55)
FGFR1



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Isolated trigonocephaly
FGFR1 FREM1



Microform holoprosencephaly
Isolated trigonocephaly

Synonym(s):
- Microform HPE

Synonym(s):
- Non-syndromic metopic craniosynostosis

Classification (Orphanet):
(no data available)
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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Isolated trigonocephaly

Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

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

Occasional
- Omphalocele / exomphalos


Microform holoprosencephaly

(no data available)