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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
18 signs/symptoms
Isolated plagiocephaly
Muenke syndrome

FGFR3 FGFR3
TCF12


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Muenke syndrome



Isolated plagiocephaly
Muenke syndrome

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

Synonym(s):
(no synonyms)

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: unknown
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 -
1 MeSH reference: C537369


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


Isolated plagiocephaly
Muenke syndrome

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

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

Occasional
- Hearing loss / hypoacusia / deafness


Frequent
- Brachycephaly / flat occiput
- Carpal bones fusion / synostosis
- Cone epiphyses / epiphysis
- Cranial hypertension
- High vaulted / narrow palate
- Hypertelorism
- Proptosis / exophthalmos
- Ptosis
- Sensorineural deafness / hearing loss
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Tarsal anomaly / fusion / synostosis

Occasional
- Hydrocephaly