Management of craniofrontonasal syndrome calls for a multidisciplinary team, involving a clinical geneticist for the identification of the cardinal features and initial diagnosis, as well as a Neurosurgeons, Plastic and Reconstructive Surgery, Maxillofacial, Orthopedics, Audiology, Ophthalmology and Clinical Psychology teams.
All the above, considering the most prevalent features of the syndrome, which are mainly craniofacial (craniosynostosis, cleft lip and/or palate, hypertelorism, scoliosis, hearing aids, others). However, we might also add the surveillance of Urology and Gynecological teams, as genitourinary anomalies, have also been reported (uterus didelphys, septate vagina, duplex kidney).
Patients might also require speech and language therapy. However, every case should be individualized.
EFNB1