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Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Otodental syndrome

Pfeiffer syndrome type 2

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF3	(0.65)	FGFR2

Citations in the biomedical literature:

Otodental syndrome		Pfeiffer syndrome type 2
	Synonym(s): - Globodontia - Otodental dysplasia		Synonym(s): (no synonyms)

	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

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

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


COMMON SIGNS	- Autosomal dominant inheritance - High vaulted / narrow palate

Otodental syndrome		Pfeiffer syndrome type 2
	Very frequent - Tooth shape anomaly Frequent - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Enamel anomaly - Long face - Sensorineural deafness / hearing loss - Taurodontia - 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 - Long philtrum - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Pigmented naevi / naevus pigmentosus / lentigo - Prominent / bat ears - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia		Very frequent - Arnold-Chiari anomaly - Broad / bifid big toe - Broad / bifid thumb - Cloverleaf skull - Depressed nasal bridge - High forehead - Hypertelorism - 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 - Thumb hypoplasia / aplasia / absence Frequent - Choanal atresia - External auditory canal atresia / stenosis / agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Tracheomalacia / tracheobronchomalacia Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cranial hypertension - Early death / lethality - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Visual loss / blindness / amblyopia