X-kromoszómához kötött domináns
Caused by changes in the EFNB1 gene on the X chromosome, which guides how cells sort and position themselves during development. In females, a mixture of cells with and without working EFNB1 disrupts this signalling, so they are more severely affected than males, who usually have few signs.
Tünetek és jelek
In females, widely spaced eyes, early fusion of the coronal skull sutures, a broad or split nasal tip, and frizzy, wiry hair are typical, often with grooved nails. Less often there are cleft lip or palate, narrow sloping shoulders, or finger and toe differences. Males with a change are usually only mildly affected, often just with widely spaced eyes.
Mit változtat a diagnózis
Care from a craniofacial team, with skull and facial surgery when needed, and eye, hearing and dental review. Genetic counselling is important because of the unusual inheritance pattern, and testing of parents helps clarify recurrence risk.
Vizsgált gének
Más néven
CFND; CFNS; Craniofrontonasal Dysplasia; craniofrontonasal dysplasia, X-linked dominant
