ODCs

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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: 1

Familial scaphocephaly syndrome, McGillivray type

1 OMIM reference -
1 associated gene
16 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Familial scaphocephaly syndrome, McGillivray type

FGF3

(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		Familial scaphocephaly syndrome, McGillivray type
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit

	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: <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


COMMON SIGNS	- Hypertelorism

Deafness with labyrinthine aplasia, microtia, and microdontia		Familial scaphocephaly syndrome, McGillivray type
	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 - Strabismus / squint - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration		Very frequent - Autosomal dominant inheritance - High forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface Occasional - Broad / bifid big toe - Dilated cerebral ventricles without hydrocephaly - Prognathism / prognathia - Syndactyly of toes - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures