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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

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Pfeiffer syndrome type 3

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		Pfeiffer syndrome type 3
	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 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: (no data available)

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


COMMON SIGNS	- Hypertelorism

Deafness with labyrinthine aplasia, microtia, and microdontia		Pfeiffer syndrome type 3
	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 - Arnold-Chiari anomaly - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - External auditory canal atresia / stenosis / agenesis - High forehead - High vaulted / narrow palate - Laryngomalacia - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Stenosis of aqueduc of Sylvius - Thumb hypoplasia / aplasia / absence - Tracheomalacia / tracheobronchomalacia - Turricephaly / oxycephaly / acrocephaly Frequent - Choanal atresia - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Ectopic / horseshoe / fused kidneys - Hearing loss / hypoacusia / deafness - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Vesicorenal / vesicoureteral reflux - Visual loss / blindness / amblyopia