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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: 3

Osteoglophonic dwarfism

1 OMIM reference -
1 associated gene
20 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Osteoglophonic dwarfism

FGF3

(UniProt - OMIM)

FGFR1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF3	(0.52)	FGFR1

Citations in the biomedical literature:

Deafness with labyrinthine aplasia, microtia, and microdontia		Osteoglophonic dwarfism
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): (no synonyms)

	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): - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C548011		External references: 1 OMIM reference - 1 MeSH reference: C536050


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Hypertelorism - Micrognathia / retrognathia / micrognathism / retrognathism

Deafness with labyrinthine aplasia, microtia, and microdontia		Osteoglophonic dwarfism
	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 - Pointed chin - Small / triangular nares / nostrils Occasional - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Long / large / bulbous nose - Preauricular / branchial tags / appendages - Strabismus / squint - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration		Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes