ODCs

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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Deafness with labyrinthine aplasia, microtia, and microdontia

1 OMIM reference -
1 associated gene
24 signs/symptoms

Saethre-Chotzen syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

FGFR2	(UniProt - OMIM)	FGF3	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2 FGFR3	(0.65) (0.52)	FGF3 FGF3

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Deafness with labyrinthine aplasia, microtia, and microdontia
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: C548011


COMMON SIGNS	- Hypertelorism - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Sensorineural deafness / hearing loss - Strabismus / squint

Saethre-Chotzen syndrome		Deafness with labyrinthine aplasia, microtia, and microdontia
	Very frequent - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - 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 - 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 - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal recessive inheritance - Complete / partial microdontia - Cranial nerve anomalies - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Tooth shape anomaly Frequent - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Long face - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed chin - Small / triangular nares / nostrils Occasional - Anodontia / oligodontia / hypodontia - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Long / large / bulbous nose - Preauricular / branchial tags / appendages - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration