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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
14 signs/symptoms
Craniosynostosis, Boston type
Hypodontia - dysplasia of nails

MSX2 MSX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSX2
(0.78)
MSX1



Citations in the biomedical literature:


Craniosynostosis, Boston type
MSX2
Hypodontia - dysplasia of nails
MSX1



Craniosynostosis, Boston type
Hypodontia - dysplasia of nails

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

Synonym(s):
- Hypodontia - nail dysgenesis
- Tooth and nail syndrome
- Witkop syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin 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: unknown
Average age onset: childhood
Average age of death: normal
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
Hypodontia - dysplasia of nails

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
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Nails anomalies
- Thin / hypoplastic toenails
- Tooth shape anomaly

Frequent
- Everted lower lip
- Fine hair

Occasional
- Abnormal / polycystic ovaries