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Cleidocranial dysplasia
2 OMIM references -
1 associated gene
53 connected diseases
40 signs/symptoms
Disease Type of connection
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Aneurysm - osteoarthritis syndrome
Berardinelli-Seip congenital lipodystrophy
Familial thoracic aortic aneurysm and aortic dissection
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
2q37 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Uveal coloboma - cleft lip and palate - intellectual deficit
Familial isolated dilated cardiomyopathy
Craniosynostosis, Boston type
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Cerebellar ataxia - hypogonadism
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Blepharophimosis-intellectual deficit syndrome, SBBYS type
Genitopatellar syndrome
Noonan syndrome
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute promyelocytic leukemia
Adrenocortical carcinoma
Autosomal dominant hyper-IgE syndrome
B-cell chronic lymphocytic leukemia
Burkitt lymphoma
Dedifferentiated liposarcoma
Essential thrombocythemia
Familial melanoma
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Giant cell glioblastoma
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Well-differentiated liposarcoma
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
- Cleidocranial dysostosis

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

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

Gene symbol UniProt reference OMIM reference
RUNX2 Q13950600211
Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- 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
- Short stature / dwarfism / nanism
- Supernumerary teeth / polyodontia
- Wormian bones

- 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
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Short hand / brachydactyly
- Sloping forehead
- Small face

- 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
- Mutiple fractures / bone fragility
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)