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Saethre-Chotzen syndrome
1 OMIM reference -
3 associated genes
38 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 15
Crouzon disease
1 OMIM reference -
2 associated genes
32 signs/symptoms
Saethre-Chotzen syndrome
Crouzon disease

FGFR2
(UniProt - OMIM)
 ERF
(UniProt - OMIM)
FGFR3
(UniProt - OMIM)
 FGFR2
(UniProt - OMIM)
TWIST1
(UniProt - OMIM)

COMMON
GENES 		FGFR2


Citations in the biomedical literature:


Saethre-Chotzen syndrome
FGFR2 FGFR3 TWIST1
Crouzon disease
ERF



Saethre-Chotzen syndrome
Crouzon disease

Synonym(s):
- ACS3
- Acrocephalosyndactyly type 3
- SCS
Synonym(s):
- Crouzon craniofacial dysostosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
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
- Beaked nose
- Conductive deafness / hearing loss
- Cranial hypertension
- Craniostenosis / craniosynostosis / sutural synostosis
- External auditory canal atresia / stenosis / agenesis
- Facial pain / cephalalgia / migraine
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ptosis
- Skull / cranial anomalies
- Strabismus / squint
- Visual loss / blindness / amblyopia

Saethre-Chotzen syndrome
Crouzon disease

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Syndactyly of fingers / interdigital palm

Frequent
- Dystonia / torticollis / writer's cramp / blepharospasms
- External ear anomalies
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- 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
- Congenital cardiac anomaly / malformation / cardiopathy
- Early death / lethality
- Hallux valgus
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Radioulnar synostosis
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Very frequent
- Facial dysmorphism
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Acanthosis nigricans
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Coloboma of iris
- High vaulted / narrow palate
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Pigmented naevi / naevus pigmentosus / lentigo
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly