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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Saethre-Chotzen syndrome

Antley-Bixler syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Antley-Bixler syndrome
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): (no synonyms)

	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 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537780


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Low set ears / posteriorly rotated ears - Strabismus / squint

Saethre-Chotzen syndrome		Antley-Bixler syndrome
	Very frequent - Autosomal dominant inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - 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 - 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 - Conductive deafness / hearing loss - Cranial hypertension - Early death / lethality - Facial pain / cephalalgia / migraine - Hallux valgus - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - 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		Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Brachycephaly / flat occiput - Camptodactyly of fingers - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Humeroradial fusion - Long hand / arachnodactyly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short / small nose Frequent - Choanal atresia - Proptosis / exophthalmos - Structural anomalies of the kidney and the urinary tract Occasional - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Talipes-varus / metatarsal varus - Turricephaly / oxycephaly / acrocephaly