Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated cloverleaf skull syndrome
Susceptibility to viral and mycobacterial infections

ERF STAT1
FGFR3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
(0.66)
STAT1



Citations in the biomedical literature:


Isolated cloverleaf skull syndrome
ERF FGFR3
Susceptibility to viral and mycobacterial infections
STAT1



Isolated cloverleaf skull syndrome
Susceptibility to viral and mycobacterial infections

Synonym(s):
- Kleeblattschaedel syndrome

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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

Isolated cloverleaf skull syndrome

Very frequent
- Autosomal dominant inheritance
- Beaked nose
- Depressed premaxillary region / midface
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Stillbirth / neonatal death

Frequent
- Abnormal vertebral size / shape
- Craniostenosis / craniosynostosis / sutural synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of fingers / interdigital palm



Susceptibility to viral and mycobacterial infections

(no data available)