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Oculootodental syndrome
1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Thanatophoric dysplasia type 2
2 OMIM references -
1 associated gene
36 signs/symptoms
Oculootodental syndrome
Thanatophoric dysplasia type 2

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

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


Citations in the biomedical literature:


Oculootodental syndrome
FADD FGF3
Thanatophoric dysplasia type 2
FGFR3



Oculootodental syndrome
Thanatophoric dysplasia type 2

Synonym(s):
- OOD
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:
(no data available)
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
Thanatophoric dysplasia type 2

Very frequent
- Autosomal dominant inheritance
- 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


Oculootodental syndrome

(no data available)