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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: 5

Apert syndrome

1 OMIM reference -
1 associated gene
45 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Apert syndrome

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		Apert syndrome
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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 / 100 000 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 - 1 MeSH reference: D000168


COMMON SIGNS	- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hypertelorism - Sensorineural deafness / hearing loss - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals

Deafness with labyrinthine aplasia, microtia, and microdontia		Apert syndrome
	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 - Tooth shape anomaly Frequent - Broad nasal root - 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 - Brachycephaly / flat occiput - Conductive deafness / hearing loss - Depressed nasal bridge - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Broad / bifid thumb - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Arnold-Chiari anomaly - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ovary / ovarian teratoma / germinoma - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Visual loss / blindness / amblyopia