Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated scaphocephaly
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX4 ALX1
ERF
TWIST1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALX4
(0.52)
ALX1



Citations in the biomedical literature:


Isolated scaphocephaly
ALX4 ERF TWIST1
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1



Isolated scaphocephaly
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Synonym(s):
- Isolated dolichocephaly
- Non-syndromic sagittal synostosis

Synonym(s):
- ALX1-related frontonasal dysplasia

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
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Isolated scaphocephaly

Very frequent
- Dolichocephaly / scaphocephaly

Occasional
- Autosomal dominant inheritance
- Cranial hypertension
- Frontal bossing / prominent forehead
- Prominent occiput / occipital bossing


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

(no data available)