Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
17 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
2 OMIM references -
1 associated gene
40 signs/symptoms
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Cleidocranial dysplasia

RUNX2 RUNX2


COMMON
GENES
RUNX2



Citations in the biomedical literature:


Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
RUNX2
Cleidocranial dysplasia



Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Cleidocranial dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Cleidocranial dysostosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D002973


COMMON
SIGNS
- Autosomal dominant inheritance
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short hand / brachydactyly
- Short stature / dwarfism / nanism


Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Cleidocranial dysplasia

Very frequent
- Beaked nose
- Dental staining anomaly / spotted teeth / erythrodontia
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short philtrum
- Thin / retracted lips

Frequent
- Abnormal vertebral size / shape
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus

Occasional
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy


Very frequent
- Anomalies of teeth and dentition
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Repeat respiratory infections
- Supernumerary teeth / polyodontia
- Wormian bones

Frequent
- Anomalies of ear and hearing
- Anomalies of the ribs
- Chronic / relapsing otitis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Sloping forehead
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)