ODCs

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Crouzon syndrome - acanthosis nigricans

1 OMIM reference -
1 associated gene
29 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 13

Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Saethre-Chotzen syndrome

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Saethre-Chotzen syndrome
	Synonym(s): - Crouzono-dermoskeletal syndrome		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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Beaked nose - Conductive deafness / hearing loss - Cranial hypertension - Facial pain / cephalalgia / migraine - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ptosis - Short hand / brachydactyly - Strabismus / squint - Visual loss / blindness / amblyopia

Crouzon syndrome - acanthosis nigricans		Saethre-Chotzen syndrome
	Very frequent - Acanthosis nigricans - Frontal bossing / prominent forehead - High forehead Frequent - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Hydrocephaly - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Turricephaly / oxycephaly / acrocephaly Occasional - High vaulted / narrow palate - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly		Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies - Syndactyly of fingers / interdigital palm Frequent - 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 - Simian crease / transverse / unique palmar crease Occasional - Apnea / sleep apnea - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Early death / lethality - Hallux valgus - Hearing loss / hypoacusia / deafness - 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