Which are the symptoms of Nager Syndrome?

Nager Syndrome, also known as Nager acrofacial dysostosis, is a rare genetic disorder that primarily affects the development of the face, limbs, and ears. It is characterized by a combination of craniofacial abnormalities and limb malformations. The severity of symptoms can vary widely among individuals with Nager Syndrome.

Symptoms of Nager Syndrome:

Craniofacial Abnormalities:

• Micrognathia: This is one of the defining features of Nager Syndrome. It refers to an abnormally small lower jaw, which can cause difficulties with breathing, feeding, and speech.


• Underdeveloped cheekbones: The cheekbones may be hypoplastic or absent, leading to a flat or sunken appearance of the midface.


• Downward slanting of the eyes: The outer corners of the eyes may be lower than the inner corners, giving a characteristic appearance.


• Coloboma: Some individuals with Nager Syndrome may have coloboma, which is a gap or split in the structures of the eye, such as the iris, retina, or optic nerve.


• Hearing loss: Conductive hearing loss is common in Nager Syndrome due to malformation or absence of the external ear canal and middle ear structures.

Limb Malformations:

• Thumb abnormalities: The thumbs are often underdeveloped or absent. This is a characteristic feature of Nager Syndrome.


• Forearm and hand abnormalities: The radius bone in the forearm may be shortened or missing, and the hands may have additional malformations such as fused fingers or missing digits.


• Lower limb abnormalities: Some individuals may have abnormalities in the lower limbs, including shortened or missing bones.

Other Features:

• Feeding difficulties: Infants with Nager Syndrome may have difficulty sucking and swallowing, which can lead to poor weight gain and nutritional issues.


• Respiratory problems: The small lower jaw and associated airway abnormalities can cause breathing difficulties, especially during sleep.


• Speech delay: Due to the craniofacial abnormalities, individuals with Nager Syndrome may experience delayed speech development.


• Intellectual disability: While not always present, some individuals with Nager Syndrome may have intellectual disability or learning difficulties.

It is important to note that the symptoms and their severity can vary significantly among individuals with Nager Syndrome. Some individuals may have mild manifestations, while others may have more pronounced abnormalities. Early intervention and appropriate medical care can help manage the symptoms and improve the quality of life for individuals with Nager Syndrome.