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Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
1 OMIM reference -
1 associated gene
53 connected diseases
17 signs/symptoms
Disease Type of connection
Cleidocranial dysplasia
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
Gliosarcoma
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RUNX2 Q13950600211
Very frequent
- Autosomal dominant inheritance
- Beaked nose
- Dental staining anomaly / spotted teeth / erythrodontia
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- 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
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Mutiple fractures / bone fragility