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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Microform holoprosencephaly
Familial scaphocephaly syndrome, McGillivray type

CDON FGFR2
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.62)
FGFR2



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Familial scaphocephaly syndrome, McGillivray type
FGFR2



Microform holoprosencephaly
Familial scaphocephaly syndrome, McGillivray type

Synonym(s):
- Microform HPE

Synonym(s):
- Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Familial scaphocephaly syndrome, McGillivray type

Very frequent
- Autosomal dominant inheritance
- High forehead
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly

Frequent
- Dental malocclusion
- Dolichocephaly / scaphocephaly
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface

Occasional
- Broad / bifid big toe
- Dilated cerebral ventricles without hydrocephaly
- Prognathism / prognathia
- Syndactyly of toes
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures


Microform holoprosencephaly

(no data available)