ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Deafness with labyrinthine aplasia, microtia, and microdontia

FGFR2-related bent bone dysplasia


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		FGFR2-related bent bone dysplasia
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): - Perinatal lethal bent bone dysplasia

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Deafness with labyrinthine aplasia, microtia, and microdontia
	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 - Hypertelorism - Long / large / bulbous nose - Preauricular / branchial tags / appendages - Strabismus / squint - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration
FGFR2-related bent bone dysplasia
(no data available)