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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
3 OMIM references -
1 associated gene
38 signs/symptoms
Cleidocranial dysplasia
Campomelic dysplasia

RUNX2 SOX9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.65)
SOX9



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
Campomelic dysplasia
SOX9



Cleidocranial dysplasia
Campomelic dysplasia

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- Campomelic dwarfism

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare urogenital disease

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

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

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
3 OMIM references -
1 MeSH reference: D055036


COMMON
SIGNS
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Short stature / dwarfism / nanism


Cleidocranial dysplasia
Campomelic dysplasia

Very frequent
- Anomalies of teeth and dentition
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- 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
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Short hand / brachydactyly
- Sloping forehead
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Epiphyseal anomaly
- Genu valgum
- Motor deficit / trouble
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Bone / osseous hypoplasia
- Bowed diaphysis / diaphyses / long bones
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Flat face
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Lack / delayed ossification of spine / vertebrae
- Laryngomalacia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib number anomalies
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Short neck
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Tracheomalacia / tracheobronchomalacia

Frequent
- Ambiguous genitalia
- Dermoid sinus / dimple / pit (excluding sacral)
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Low set ears / posteriorly rotated ears
- Male pseudohermaphrodism / lack of virilisation
- Proptosis / exophthalmos
- Talipes-varus / metatarsal varus

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Depressed nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Kyphosis
- Megaureter / hydronephrosis / pyeloureteral junction syndrome