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Craniofrontonasal dysplasia

Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males. [Source: Wikipedia ]

OrphaNet reference
Craniofrontonasal dysplasia 
May Cause
Bifid nose
Body asymmetry
Camptodactyly
Cleft lip/palate
Clinodactyly
Congenital abnormality of great toe
Congenital midface hypoplasia
Congenital premature craniosynostosis
Craniosynostosis
Duplication of great toe
Facial hypoplasia
Frontal bossing
Hypertelorism
Preaxial polydactyly
Syndactyly
May Be Caused by
Craniofrontonasal dysplasia - Poland anomaly
OrphaNet reference
Craniofrontonasal dysplasia 
May Cause
Bifid nose
Body asymmetry
Camptodactyly
Cleft lip/palate
Clinodactyly
Congenital abnormality of great toe
Congenital midface hypoplasia
Congenital premature craniosynostosis
Craniosynostosis
Duplication of great toe
Facial hypoplasia
Frontal bossing
Hypertelorism
Preaxial polydactyly
Syndactyly
May Be Caused by
Craniofrontonasal dysplasia - Poland anomaly


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