Nager acrofacial dysostosis

Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder that affects the face and the limbs. Its characteristics can include underdevelopment of the cheek and jaw area, downward-sloping eye openings, missing lower eyelashes, a shortened soft palate, possible cleft palate, poorly developed internal and external ears with hearing loss, underdevelopment or absence of the thumb, shortened forearms with limited elbow movement, hammer toes, kidney or stomach reflux and sometimes accessory tragi. Vertebral anomalies such as scoliosis occasionally appear. The pattern of inheritance is autosomal, but sources argue over whether it is dominant or recessive, and most cases are sporadic. The syndrome shares many features with other craniofacial syndromes, namely Miller, Treacher Collins and Pierre Robin. This entry records descriptions and is not medical advice.