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Craniosynostosis, Boston type

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Glucocorticoid resistance

1 associated gene
No signs/symptoms info

Craniosynostosis, Boston type

Glucocorticoid resistance

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MSX2	(0.63)	NR3C1

Citations in the biomedical literature:

Craniosynostosis, Boston type		Glucocorticoid resistance
	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 developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Craniosynostosis, Boston type
	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
Glucocorticoid resistance
(no data available)