Nager Syndrome

What is Nager syndrome?

Nager syndrome (also known as acrofacial dysostosis 1, Nager type) is a rare genetic condition where your child is born with underdeveloped bones in their face, hands and arms. Because this condition causes side effects like hearing loss due to underdevelopment of certain parts of their anatomy, children may face developmental delays like learning how to speak. Nager syndrome typically doesn’t affect the intelligence (cognitive development) of the person diagnosed with this condition.

Who does Nager syndrome affect?

Nager syndrome is a genetic condition that can affect anyone with a specific mutated gene in their DNA during fetal development. Children diagnosed with the condition may inherit it from their parents or acquire it from a new genetic mutation. It’s more common for the condition to arise after a new genetic mutation.

If your child inherits the condition, only one parent needs to carry and pass the mutated gene through their DNA (autosomal dominant). If both parents are carriers of the mutated gene, meaning that they don’t have symptoms of the condition but have the affected gene in their DNA, they can pass the mutated gene onto their child (autosomal recessive). If a family has more than one child diagnosed with Nager syndrome but neither parent has it, the gene likely passed from both parents in an autosomal recessive pattern.

How common is Nager syndrome?

Nager syndrome is a very rare condition and the exact frequency of the condition is unknown. More than 100 cases exist in medical literature.

What are the symptoms of Nager syndrome?

Nager syndrome affects the development of your child’s face, hands and arms. Symptoms of the genetic condition include:

• Cleft palate.
• Curved fingers (clinodactyly) or webbed fingers (syndactyly).
• Downward slanting eyes (down-slanting palpebral fissures).
• Small lower jaw (micrognathia).
• Missing or malformed thumbs.
• Short forearms (missing radius bone) and short range of motion at the elbow.
• Small ears.
• Underdeveloped cheekbones (malar hypoplasia).

Although rare, your child may have birth defects involving their heart, kidneys, genitalia and/or urinary tract.

Because some of your baby’s bones didn’t develop completely as a result of a genetic mutation, the symptoms of Nager syndrome have side effects, including:

• Hearing loss.
• Blocked airways.
• Feeding problems.
• Delayed speech development.

What causes Nager syndrome?

A genetic mutation of the SF3B4 gene causes around 50% of Nager syndrome cases. The remaining 50% of people diagnosed with Nager syndrome inherited it in an autosomal recessive form, where the mutated gene hasn’t been identified yet.

How is Nager syndrome diagnosed?

Diagnosis of Nager syndrome begins with a physical examination of your baby after birth. Your healthcare provider will look for physical characteristics of the condition and might order an X-ray to examine how your child’s bones formed in their face, hands and arms.

Genetic testing may confirm the diagnosis. Your healthcare provider will take a small sample of your child’s blood from their heel. In a lab, a technician will examine the sample for any changes in their DNA, chromosomes or proteins, which are signs of a genetic condition.

How is Nager syndrome treated?

Treatment for Nager syndrome varies based on the severity of the diagnosis. If you have a child with Nager syndrome, they’ll likely need surgery shortly after they’re born to alleviate any side effects of the condition, including:

• Tracheostomy: Your healthcare provider will create an opening in your child’s throat and place a tube to help your child breathe.
• Gastrostomy: Your healthcare provider will create an opening in your child’s stomach and place a feeding tube to help your child get the nutrients necessary for survival.
• Tympanostomy: Your healthcare provider will insert tubes into your child’s ears to prevent ear infections and improve their hearing. Hearing aids might be necessary depending on the severity of their diagnosis.
• Craniofacial surgery: Your healthcare provider may address any physical differences in your, child including repairing a cleft palate, adjusting underdevelopment of their jaw and repairing sloped eyes.

How do I manage symptoms of Nager syndrome?

Early detection and treatment of any symptoms of the condition lead to a positive outcome. In addition to surgery, several therapies are available to help your child reach their full potential, including:

• Physical therapy: Physical therapy will help your child become more mobile, especially walking and using their hands.
• Speech therapy: Your child may experience hearing loss, which could affect when and how your child learns to speak. Speech therapy addresses any vocal developmental delays.
• Psychosocial therapy: Psychosocial therapy is available not only to your child, but also to the entire family to provide guidance and support for everyone’s mental health.
• Genetic counseling: Genetic counselors assess your risk of having a child with a genetic condition, offer support before and during pregnancy, and provide guidance on care and wellness after your child is born.

How can I reduce my risk of having a child with Nager syndrome?

As Nager syndrome is often the result of a genetic mutation that happens randomly, there’s no way to prevent the condition. If a parent has Nager syndrome, there may be a way to lessen the chance of passing it on, but assessment by geneticists and other healthcare providers would be necessary. If you plan on becoming pregnant, reach out to your healthcare provider for genetic testing to assess your risks of having a child with a genetic condition.

What can I expect if I have a child with Nager syndrome?

Nager syndrome is a lifelong condition with no cure. After your child is born, your healthcare provider will likely schedule surgery to treat any side effects of the condition, specifically to improve how your child breathes and eats. Your child should regularly see their healthcare provider as they grow to make sure they reach developmental milestones and remedy any milestone delays. Early intervention to address the side effects of the condition will help your child live a healthy and full life.

If I have a child with Nager syndrome, will my future children get the condition?

It’s possible to have more than one child with Nager syndrome if the gene passes from one parent onto the child. To assess your risk of passing genetic conditions onto future children, talk with your healthcare provider about genetic testing.

When should I see my healthcare provider?

With treatment and early intervention to manage the side effects of the condition, your child will be able to grow up alongside of their peers with a normal life expectancy. It’s important to schedule regular visits with your child’s healthcare provider, especially during their first year, to monitor their physical growth and developmental milestones. Visit your healthcare provider if you notice:

• Your child misses developmental milestones.
• The skin at or around a surgical site isn’t healing, swells, changes color or leaks a yellow or clear fluid (infection).
• Your child isn’t responding to basic commands or has trouble hearing.

If your child has trouble breathing, call 911 immediately.

What questions should I ask my doctor?

• What should I do if my child misses developmental milestones?
• Will my child need additional surgeries after they’re born?
• What’s the risk that I’ll have another child with the same genetic condition?

What is the difference between Nager syndrome and Miller syndrome?

Miller syndrome (postaxial acrofacial dysostosis) is a rare genetic condition similar to Nager syndrome. Both conditions share defining characteristics of the face, hands and arms due to bones and cartilage not forming completely during fetal development. Miller syndrome affects the feet, whereas Nager syndrome usually does not. Miller syndrome occurs because of a mutation of the DHODH gene; a mutation in the SF3B4 gene causes Nager syndrome.

A note from Cleveland Clinic

While a rare diagnosis may seem overwhelming, children born with Nager syndrome have a positive prognosis with early intervention and treatment advised by your healthcare provider. Even though the reason for genetic mutations is unknown, the gene that causes the condition can pass from parent to child. If you’re planning on becoming pregnant, ask your healthcare provider about genetic testing to identify your risk of having a child with a genetic condition.