ODCs

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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Focal facial dermal dysplasia

4 OMIM references -
2 associated genes
15 signs/symptoms

Saethre-Chotzen syndrome

Focal facial dermal dysplasia

FGFR2	(UniProt - OMIM)	CYP26C1	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)	TWIST2	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TWIST1	(0.63)	TWIST2

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Focal facial dermal dysplasia
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - Bitemporal aplasia cutis congenital - Brauer syndrome - FFDD type I - Hereditary symmetrical aplastic nevi of temples

	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 skin 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 dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 2 MeSH references: C536385 / C537068


COMMON SIGNS	- Autosomal dominant inheritance

Saethre-Chotzen syndrome		Focal facial dermal dysplasia
	Very frequent - 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 - Hypertelorism - Low hair line-front - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Ptosis - Short hand / brachydactyly - Simian crease / transverse / unique palmar crease - Strabismus / squint 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 - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia		Very frequent - Abnormal fat distribution / lipodystrophy - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of eyelids, eyelashes and lacrimal system - Facial dysmorphism - Irregular / in bands / reticular skin hyperpigmentation - Muscle anomalies - Rippled skin - Skin hypoplasia / aplasia / atrophy Frequent - Anomalies of mouth, lip and philtrum - Anomalies of nose and olfaction - Depressed nasal bridge - Eyebrows anomalies - Pointed chin - Puffy eyelids