La Displasia craniofrontonasale è un disturbo dello sviluppo legato al cromosoma X che mostra una maggiore severità nelle femmine eterozigoti rispetto ai maschi. Può essere causata da mutazioni nel gene EFNB1 sul cromosoma Xq12.
Le femmine hanno displasia fronto-nasale, asimmetria cranio-facciale, craniosinostosi, punta del naso bifido, unghie scanalate, capelli ispidi e le anomalie dello scheletro toracico, mentre i maschi di solito mostrano solo ipertelorismo.
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