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1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 7
1 OMIM reference -
3 associated genes
52 signs/symptoms
Otodental syndrome
Lacrimo-auriculo-dento-digital syndrome

FGF3 FGF10
FGFR2
FGFR3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF3
FGF3
(0.65)
(0.52)
FGFR2
FGFR3



Citations in the biomedical literature:


Otodental syndrome
FGF3
Lacrimo-auriculo-dento-digital syndrome
FGF10 FGFR2 FGFR3



Otodental syndrome
Lacrimo-auriculo-dento-digital syndrome

Synonym(s):
- Globodontia
- Otodental dysplasia

Synonym(s):
- LADD syndrome
- LARD syndrome
- Lacrimo-auriculo-radio-dental syndrome
- Levy-Hollister syndrome

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

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Enamel anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Sensorineural deafness / hearing loss
- Taurodontia
- Tooth shape anomaly


Otodental syndrome
Lacrimo-auriculo-dento-digital syndrome

Frequent
- Broad cheeks / cherub-like / cherubin face
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Long face
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Cataract / lens opacification
- Coloboma of iris
- Coloboma of the lens
- Heterochromia / mixed colouring of iris
- High vaulted / narrow palate
- Long philtrum
- Microcornea
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma
- Supernumerary teeth / polyodontia


Very frequent
- Broad / bifid thumb
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Clinodactyly of toes
- Complete / partial microdontia
- Conductive deafness / hearing loss
- Congenital alacrimia
- Defect / anomaly of lacrimal system
- External ear anomalies
- Fingerlike / triphalangeal thumb
- Folded helix
- Small / hypoplastic / adherent / absent ear lobe

Frequent
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Antihelix anomaly
- Broad / bifid big toe
- Clinodactyly of fifth finger
- Corneal ulceration / perforation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Mouth dryness / xerostomia
- Multiple caries
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Syndactyly of fingers / interdigital palm
- Telecanthus / canthal dystopy
- Thumb anomalies (excluding hypoplasia)
- Visual loss / blindness / amblyopia

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Broad forehead
- Choanal atresia
- Cleft lip and palate
- Deepset eyes / enophthalmos
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- High forehead
- Hypospadias / epispadias / bent penis
- Large fontanelle / delayed fontanelle closure
- Nephrosclerosis
- Ptosis
- Radial club hand
- Radioulnar synostosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Renal disease / nephropathy
- Rib structure anomalies
- Stillbirth / neonatal death
- Thumb hypoplasia / aplasia / absence