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Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

Antley-Bixler syndrome

Otodental syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Antley-Bixler syndrome		Otodental syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Globodontia - Otodental dysplasia

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C537780		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anteverted nares / nostrils - Long philtrum

Antley-Bixler syndrome		Otodental syndrome
	Very frequent - Autosomal recessive inheritance - Brachycephaly / flat occiput - Camptodactyly of fingers - Congenital cardiac anomaly / malformation / cardiopathy - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Humeroradial fusion - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short / small nose Frequent - Choanal atresia - Craniostenosis / craniosynostosis / sutural synostosis - Proptosis / exophthalmos - Structural anomalies of the kidney and the urinary tract Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Hypertelorism - Microstomia / little mouth - Mutiple fractures / bone fragility - Strabismus / squint - Talipes-varus / metatarsal varus - Turricephaly / oxycephaly / acrocephaly		Very frequent - Autosomal dominant inheritance - 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 - Cataract / lens opacification - Coloboma of iris - Coloboma of the lens - Heterochromia / mixed colouring of iris - High vaulted / narrow palate - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Pigmented naevi / naevus pigmentosus / lentigo - Prominent / bat ears - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia