ODCs

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Crouzon syndrome - acanthosis nigricans

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Otodental syndrome

FGFR3

(UniProt - OMIM)

FGF3

(UniProt - OMIM)


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

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Otodental syndrome
	Synonym(s): - Crouzono-dermoskeletal syndrome		Synonym(s): - Globodontia - Otodental dysplasia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the digestive system -

	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 / 1 000 000 Average age onset: childhood Average age of death: - 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 - High vaulted / narrow palate

Crouzon syndrome - acanthosis nigricans		Otodental syndrome
	Very frequent - Acanthosis nigricans - Frontal bossing / prominent forehead - High forehead Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis - Short hand / brachydactyly - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Beaked nose - Facial pain / cephalalgia / migraine - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		Very frequent - Tooth shape anomaly Frequent - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Enamel anomaly - Long face - Sensorineural deafness / hearing loss - Taurodontia - Thickened / hypertrophic / fibromatous gingivae Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anteverted nares / nostrils - Cataract / lens opacification - Coloboma of iris - Coloboma of the lens - Heterochromia / mixed colouring of iris - Long philtrum - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Pigmented naevi / naevus pigmentosus / lentigo - Prominent / bat ears - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia