Nager syndrome

The Nager syndrome is characterized by the main features of mandibulo-facial dystosis and various preaxial limb defects.

The manibulo-facial anomalies consist of obliquely downward crevices, coloboma (lower eyelids), ptosis (upper eyelids), partially missing eyelashes, hypoplasia of the maxilla and zygomatic hypoplasia, cleft palate, absence or hypoplasia of the soft palate, and choanal atresia. Limb defects include various finger abnormalities, oral and otological anomalies.

Nager syndrome can be caused (in about 50% of cases) by mutations in the SF3B4 gene. Affected persons are mostly healthy after infancy and have a normal life expectancy. Problems can only occur in the case of severe malformations or further blockage of the respiratory tract in adulthood.

The congenital malformation syndrome rodent, also known as acrofacial dysostosis rodents (NAFD), is characterized by the main features of mandibulo-facial dystosis and various axial limb defects. The manibulo-facial anomalies consist of oblique cleft palpebral fissures, coloboma, ptosis, partially absent eyelashes, maxillary hypoplasia and zygomatic hypoplasia, cleft palate, absence or hypoplasia of the soft palate, and choanal atresia , Limb defects include various finger abnormalities, oral and otologic anomalies. The rodent syndrome can be caused (in about 50% of the cases) by mutations in the SF3B4 gene. Affected persons are usually healthy after their infancy and have a normal life expectancy. Problems can occur only in the case of severe malformations or further blockage of the respiratory tract in adulthood.