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

CDON ERF
DISP1 FGFR3
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.73)
FGFR3



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Isolated cloverleaf skull syndrome
ERF FGFR3



Microform holoprosencephaly
Isolated cloverleaf skull syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Kleeblattschaedel syndrome

Classification (Orphanet):
(no data available)
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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: sporadic

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



Microform holoprosencephaly

(no data available)