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2 OMIM references -
2 associated genes
7 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
3 associated genes
10 signs/symptoms
Isolated trigonocephaly
Multiple synostoses syndrome

FGFR1 FGF9
FREM1 GDF5
NOG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR1
(0.55)
FGF9



Citations in the biomedical literature:


Isolated trigonocephaly
FGFR1 FREM1
Multiple synostoses syndrome
FGF9 GDF5 NOG



Isolated trigonocephaly
Multiple synostoses syndrome

Synonym(s):
- Non-syndromic metopic craniosynostosis

Synonym(s):
- Deafness - symphalangism syndrome, Hermann type
- Facio-audio-symphalangism
- Symphalangism - brachydactyly
- WL syndrome

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 otorhinolaryngologic 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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Isolated trigonocephaly
Multiple synostoses syndrome

Very frequent
- Trigonocephaly

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

Occasional
- Omphalocele / exomphalos


Very frequent
- Conductive deafness / hearing loss
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Symphalangy of fingers

Frequent
- Broad / bifid thumb
- Cone epiphyses / epiphysis
- Simian crease / transverse / unique palmar crease

Occasional
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Nails anomalies