Nager acrofacial dysostosis

Nager acrofacial dysostosis, also known as Nager syndrome, is a condition present at birth that affects the development of the face and limbs. It is marked by differences in facial structure such as underdeveloped cheekbones (malar hypoplasia), a small lower jaw (micrognathia), and unusual ear shapes. These features can lead to challenges with appearance and sometimes with functions related to these structures. People with this condition are born with these facial differences and variable limb differences, especially affecting the thumb or big toe areas (preaxial limb defects). The condition is a congenital malformation syndrome, meaning the differences occur during early development. Although the signs may vary among people, the condition is recognized by its typical facial and limb features.

Common signs include facial differences such as a small lower jaw, underdeveloped cheekbones, and abnormal external ear structures. Additionally, there can be variable limb differences, particularly in the areas of the thumbs or big toes. The severity and specific features can differ from one person to another.

This condition is related to changes in the SF3B4 gene. The alteration in this gene is thought to affect early development, leading to the facial and limb differences seen in people with Nager syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.