Nager acrofacial dysostosis

An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.

Signs and symptoms

• Limited elbow extension
• Strabismus
• Short stature
• Abnormal thumb morphology
• Cervical ribs
• 4-5 toe syndactyly
• Midface retrusion
• Camptodactyly
• Lacrimal duct stenosis
• Hypoplasia of the radius

Also known as: AFD; Nager syndrome; acrofacial dysostosis 1, Nager type; preaxial acrofacial dysostosis; preaxial manibulofacial dysostosis