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Otodental syndrome
1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Thanatophoric dysplasia type 2
2 OMIM references -
1 associated gene
36 signs/symptoms
Otodental syndrome
Thanatophoric dysplasia type 2

FGF3
(UniProt - OMIM)
 FGFR3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FGF3
(0.52)
FGFR3


Citations in the biomedical literature:


Otodental syndrome
FGF3
Thanatophoric dysplasia type 2
FGFR3



Otodental syndrome
Thanatophoric dysplasia type 2

Synonym(s):
- Globodontia
- Otodental dysplasia
Synonym(s):
- Cloverleaf skull - micromelic bone dysplasia
- TD2
- Thanatophoric dwarfism - cloverleaf skull
- Thanatophoric dwarfism type 2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance

Otodental syndrome
Thanatophoric dysplasia 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
- High vaulted / narrow palate
- Long philtrum
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma
- Supernumerary teeth / polyodontia


Very frequent
- Cloverleaf skull
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat face
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Platyspondyly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Frequent
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Increased nuchal translucency
- Kyphosis
- Polyhydramnios
- Proptosis / exophthalmos
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Acanthosis nigricans
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Atrial septal defect / interauricular communication
- Encephalocele / exencephaly
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Patent ductus arteriosus
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis