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Nager Syndrome

Nager Syndrome



Overview

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.

Symptoms

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.

Diagnosis

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.

Treatment

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.

Type of Doctor Department :A Pediatrician 

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