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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Isolated plagiocephaly
Camptodactyly - tall stature - scoliosis - hearing loss

FGFR3 FGFR3
TCF12


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Camptodactyly - tall stature - scoliosis - hearing loss



Isolated plagiocephaly
Camptodactyly - tall stature - scoliosis - hearing loss

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

Synonym(s):
- CATSHL 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

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 / 1 000 000
Average age onset: childhood
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


COMMON
SIGNS
- Hearing loss / hypoacusia / deafness


Isolated plagiocephaly
Camptodactyly - tall stature - scoliosis - hearing loss

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
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Camptodactyly of fingers
- Scoliosis
- Tall stature / gigantism / growth acceleration