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Craniosynostosis, Boston type
1 OMIM reference -
1 associated gene
16 connected diseases
10 signs/symptoms
Disease Type of connection
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Split hand - split foot - deafness
Hypodontia - dysplasia of nails
Oligodontia
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Glucocorticoid resistance
Primary biliary cirrhosis
Spinocerebellar ataxia type 1
Synonym(s):
- Craniosynostosis, Warman type
- Warman-Mulliken-Hayward syndrome
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: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MSX2 P35548123101
Very frequent
- Autosomal dominant inheritance
- 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