Nager syndrome (NS) is a rare genetic condition that affects the eyes, cheekbones, ears, jaw, hands, arms and especially the airway. The severity of the syndrome varies widely among affected individuals. Since the syndrome causes bone deficiencies in the skull, face and limbs, characteristics and symptoms can include some of these, but not all:
- Airway complications (often a need for tracheostomy for breathing)
- Downward-slanting eyes and notching at the corners (coloboma)
- Eyesight issues
- Missing lower eyelashes
- Underdeveloped cheekbones (malar hypoplasia)
- Small, low-set, cupped or malformed shaped outer ears (microtia)
- Middle ear malformations causing conductive hearing loss
- Narrowing or blocked nasal cavity (choanal stenosis or atresia)
- Opening in roof of mouth (cleft palate)
- Very small jaw (micrognathia)
- Eating and speech difficulties
- Underdeveloped, malformed or absence of thumbs
- Underdeveloped/shortened forearm and/or limb malformations
- Leg, foot and toe malformations
- Less common are issues with the heart, kidney, genitalia and urinary tract
how rare is Nager syndrome?
Very rare. Currently, the incidence and number of cases remain unknown, and since physical characteristics vary widely, individuals can go undiagnosed. It is estimated there are between 200 and 300 documented cases worldwide. However, researchers believe the number is higher. Beyond the one autosomal dominant known gene (SF3B4), researchers believe there are other undiscovered dominant and recessive genes responsible for Nager syndrome.
are kids born with Nager syndrome?
Nager syndrome is caused by genetic mutation changes. Fifty percent of affected individuals are caused by the known gene (SF3B4). The other fifty percent are from unidentified genes. Researchers know that if there are two affected individuals in a family but the parents are not affected, then it is recessive in nature but the gene(s) is not yet known. It is suspected that there are more dominant genes not yet discovered.
what is the life expectancy of someone with Nager syndrome?
Individuals born with Nager syndrome typically have normal to above average intelligence. Even though surgeries are often in their future, they can have a typical life span.
how do I know if my child will be born with Nager syndrome?
If you are an affected individual with the Nager SF3B4 gene, you have a fifty percent chance of having a child with NS. Testing can be done while pregnant. While this test may tell you if your baby will have Nager, it cannot tell you the specific features or severity. After birth, an exam and DNA testing is highly recommended to determine if the baby has this syndrome.
If neither parent appears to be affected with Nager syndrome but has an affected child, DNA testing of the parents is highly recommended in case of plans for future children.
what are the genes responsible for Nager syndrome?
To date, there is one known gene responsible for NS:
- Nager syndrome (NS): gene SF3B4; chromosome 21; dominant
how do you treat Nager syndrome?
Treatment is focused on functionality and correcting skull, facial and limb malformations. This can involve craniofacial surgery for enlarging the airway and procedures such as cleft palate repair. A child with NS may see different kinds of doctors during their lifetime including reconstructive and plastic surgery, orthopedics, ENT, pulmonary, orthodontics and dental care.