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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 2
COMMON SIGNS: 4
2 OMIM references -
3 associated genes
12 signs/symptoms
Isolated plagiocephaly
Isolated brachycephaly

FGFR3 FGFR3
TCF12 TCF12
TWIST1


COMMON
GENES
FGFR3
TCF12



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Isolated brachycephaly
TWIST1



Isolated plagiocephaly
Isolated brachycephaly

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- Non-syndromic bicornal synostosis

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 eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface


Isolated plagiocephaly
Isolated brachycephaly

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Macrocephaly / macrocrania / megalocephaly / megacephaly


Very frequent
- Brachycephaly / flat occiput
- Broad forehead

Frequent
- Cranial hypertension
- Flat supraorbital ridge
- Proptosis / exophthalmos

Occasional
- Hypertelorism
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly