<unk> <unk>  syndrome,<unk>  dysostosis,<unk>  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. Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry. The diagnosis<unk>  is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis. The treatment is always surgical and is based on each patients specific phenotypic presentation.
Craniofrontonasal dysplasia
Frontonasal dysplasia
Oculodentodigital dysplasia
Cleidocranial dysostosis
Cranio-lenticulo-sutural dysplasia
Cleft Lip and Palate Association
Thanatophoric dysplasia
Sponastrime dysplasia