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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
1 OMIM reference -
3 associated genes
38 signs/symptoms
Isolated plagiocephaly
Saethre-Chotzen syndrome

FGFR3 FGFR2
TCF12 FGFR3
TWIST1


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Saethre-Chotzen syndrome
FGFR2 TWIST1



Isolated plagiocephaly
Saethre-Chotzen syndrome

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

Synonym(s):
- ACS3
- Acrocephalosyndactyly type 3
- SCS

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
- Rare oncologic 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:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Strabismus / squint


Isolated plagiocephaly
Saethre-Chotzen syndrome

Very frequent
- Frontal bossing / prominent forehead
- Plagiocephaly

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

Occasional
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Craniostenosis / craniosynostosis / sutural synostosis
- Skull / cranial anomalies
- Syndactyly of fingers / interdigital palm

Frequent
- Beaked nose
- Dystonia / torticollis / writer's cramp / blepharospasms
- External auditory canal atresia / stenosis / agenesis
- External ear anomalies
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Hypertelorism
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Ptosis
- Short hand / brachydactyly
- Simian crease / transverse / unique palmar crease

Occasional
- Abnormal vertebral size / shape
- Apnea / sleep apnea
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Cranial hypertension
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hallux valgus
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Low set ears / posteriorly rotated ears
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Radioulnar synostosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia