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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
17 signs/symptoms
Craniosynostosis, Boston type
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

MSX2 RUNX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSX2
(0.74)
RUNX2



Citations in the biomedical literature:


Craniosynostosis, Boston type
MSX2
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
RUNX2



Craniosynostosis, Boston type
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

Synonym(s):
- Craniosynostosis, Warman type
- Warman-Mulliken-Hayward syndrome

Synonym(s):
(no synonyms)

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

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: no data available
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Craniosynostosis, Boston type
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

Very frequent
- Basilary impression / invagination / cranio-spinal malformation / platybasia
- Craniostenosis / craniosynostosis / sutural synostosis
- Flat supraorbital ridge

Frequent
- Frontal bossing / prominent forehead
- Myopia
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Fingerlike / triphalangeal thumb
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- 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