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Deafness with labyrinthine aplasia, microtia, and microdontia

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Crouzon disease

FGF3	(UniProt - OMIM)		ERF	(UniProt - OMIM)
			FGFR2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Deafness with labyrinthine aplasia, microtia, and microdontia		Crouzon disease
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): - Crouzon craniofacial dysostosis

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

	Classification (ICD10): (no data available)		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 recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C548011		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hypertelorism - Strabismus / squint

Deafness with labyrinthine aplasia, microtia, and microdontia		Crouzon disease
	Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal recessive inheritance - Complete / partial microdontia - Cranial nerve anomalies - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Sensorineural deafness / hearing loss - 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		Very frequent - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Facial dysmorphism - Frontal bossing / prominent forehead - High forehead - Skull / cranial anomalies Frequent - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Ptosis - Turricephaly / oxycephaly / acrocephaly Occasional - Acanthosis nigricans - Beaked nose - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Coloboma of iris - External auditory canal atresia / stenosis / agenesis - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hydrocephaly - Irregular / patchy skin hypopigmentation - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pigmented naevi / naevus pigmentosus / lentigo - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia