Treacher Collins & Nager Syndrome

Affecting the formation of facial structures, Treacher Collins syndrome and Nager syndrome are uncommon disorders that share a number of similarities but are very different conditions. While most craniofacial signs overlap, Nager syndrome is recognizable by limb deformities of the arms and thumbs. Both abnormalities tend to result from sporadic gene mutation; however, there is evidence of genetic markers, and these birth defects can run in families.

At The Craniofacial and Plastic Surgery Center, our experienced craniofacial surgeon, Dr. Eric Payne, can diagnose and treat the multitude of concerns associated with Treacher Collins and Nager syndrome. Our multispecialty team utilizes the latest diagnostic technology available to create a customized treatment plan designed to help your child achieve the best outcome possible.

We understand that your child’s care and comfort are your top priorities, and we are dedicated to helping you. Contact our practice today for more information or to schedule a consultation with Dr. Payne.

What is Treacher Collins syndrome?

This condition occurs in about one in every 50,000 births. In some cases, the disorder appears to be genetic, with instances suggesting that a single affected parent can pass it on (autosomal dominant), and others where it appears that both parents must carry a copy of the mutated gene (autosomal recessive). Additionally, more than half of the individuals born with Treacher Collins syndrome have it as a result of random chance. This birth defect leads to underdeveloped and malformed facial structures, including the ears, eyes, cheeks, jaw, and chin. These findings are known as facial clefts and affect both sides of the face or bilateral. The specific clefts are known as Tessier’s Facial Cleft #6, #7, and #8. Fortunately, Treacher Collins syndrome does not affect intelligence, but hearing loss and vision impairment are common.

What is Nager syndrome?

Similar in many ways to Treacher Collins syndrome, Nager syndrome is distinctive in several other ways. This condition is a type of acrofacial dysostosis. “Acro” refers to the limbs, “facial” refers to the face, and dysostosis refers to defective formation of the bone. In addition to malformation of the eyes, ears, cheeks, chin, and jaw, patients with Nager syndrome have abnormalities of the arms and thumbs. If the fingers are affected rather than the thumbs, this is a different disorder called Miller syndrome. To properly diagnose the condition, Dr. Payne will consult with a geneticist. As with Treacher Collins syndrome, Nager syndrome can develop sporadically or as a result of a dominant or recessive genetic trait.

How do these disorders occur?

The cause of Treacher Collins and Nager syndrome is not well understood. Treacher Collins is associated with the mutation of one of three genes: POLR1C, POLR1D, TCOF1. A substantial majority of cases stem from changes in the TCOF1 gene. Nager syndrome is associated with anomalies of the SF3B4 gene. For many years these disorders were assumed to be completely random in nature; however, individuals with one of these disorders can potentially pass it on. Sometimes, two parents who show no signs of having either condition will have more than one child with the birth defect, suggesting a recessive genetic predisposition. In most cases, there will be no family history of Treacher Collins or Nager syndrome.

Regardless of whether the child has a family history or spontaneously developed the condition, Treacher Collins and Nager syndromes are not caused by any action or inaction on the part of the parents during pregnancy.

Can they be passed on through the family?

Individuals with Treacher Collins syndrome or Nager syndrome can potentially pass on the mutated gene to their children. There is evidence of autosomal dominant inheritance, meaning that a parent with the condition has a 50 percent chance of transferring it to their child. However, this is not always the case, and it’s not fully understood why. If you have one of these abnormalities and are planning a family, it can be helpful to consult with a geneticist to better understand the risks.

What are the signs and symptoms of Treacher Collins and Nager syndrome?

In both Treacher Collins and Nager syndrome, signs can vary greatly in severity and number. In most cases, the cheeks, jaw, and chin will be substantially malformed or underdeveloped. The structural deformities can affect one or both sides of the face, and the flattening effect on the cheeks and lower eye socket (malar prominence and zygomatic arch) lead to a drooping facial appearance. The downward-slanting eyes further emphasize this outcome. In many cases, the mouth may appear oversized (macrostomia), and the lower jaw (mandible) will be underdeveloped or missing. In both conditions, the ears will be small, misshapen, or absent, and they may sit very low on the head. The inner ear bones often will be poorly formed, causing hearing impairment or loss, which may or may not be correctable with surgery or a hearing aid. Cleft palate can also occur, and newborns should be immediately assessed for airway blockages that could lead to life-threatening breathing and eating problems.

In addition to facial malformation, Nager syndrome presents with deformities of the limbs and thumbs. The forearms may be missing the radial bone, appearing shortened as a result. Patients may also have difficulty bending and straightening at the elbow. The thumbs may be short, curved, or absent. In some rare cases, the lower limbs and big toes may be affected. Deformity of certain internal organs is also uncommon but possible. In addition to Treacher Collins syndrome, Nager syndrome shares many characteristics in common with Pierre Robin sequence.

Because of the number and variety of traits associated with these two disorders, it’s essential to develop a customized treatment plan. Each individual will experience the disorder a little differently, even if they are members of the same family. Dr. Payne is committed to providing personalized attention and care to every patient he sees.

Shared Traits:

Downward-slanting eyes
Drooping eyelids
Few or absent eyelashes
Notches in lower eyelids or missing a portion of the eyelid (eyelid colobomas)
Facial clefts (particularly of the cheek, orbital rim, and upper and lower jaw)
Cleft palate
Narrowing of nasal cavity (choanal atresia)
Small, malformed, or missing ears (microtia or anotia)
Facial paralysis
Breathing and eating problems
TMD (temporomandibular joint disorder)
Hearing impairment or loss
Vision impairment
Speech delays

Exclusive to Nager Syndrome:

Limb defects, particularly of the forearm
Missing or malformed thumbs
Defects of the internal organs (heart, kidneys, genitalia, urinary tract) (rare)
Leg and big toe abnormalities (rare)

Treacher Collins and Nager syndrome do not affect intelligence, but children with severe cleft palate and hearing loss can experience delayed speech development. Speech therapy can help individuals overcome some of these issues.

What are the treatment options?

A primary concern with any newborn assumed to have Treacher Collins syndrome or Nager syndrome will be airway assessment. In the event of a blockage, the child will be intubated and placed on a ventilator. A tracheostomy and/or gastrostomy will be performed to help the child breathe and eat, respectively. In all cases, Dr. Payne will utilize advanced 3D virtual medical modeling technology to help develop an individualized treatment plan. This allows our experienced team to view all angles of the affected soft and bony tissues. With this information, a surgical approach and timeline can be designed that can achieve the best functional and aesthetic outcome possible.

The first stage of treatment typically begins with mandibular distraction osteogenesis, or lower jaw advancement surgery. This technique allows the child to breathe on his or her own and may make a tracheostomy (a tube inserted into the neck to enhance breathing) unnecessary. This procedure often will be performed early on in the newborn’s life and is a two-step process that enlarges and repositions the jaw.

Once the child is approximately three months old, Dr. Payne can correct the shape of the mouth in the event it’s oversized (macrosomia). Once any airway issues have been resolved, a cleft palate can be addressed. Most other facial reconstructive procedures will be performed a few years down the line when the structures have finished developing. Microtia ear reconstruction surgery is typically performed around seven to nine years of age, and this treatment will likely require multiple operations. Midface reconstruction, which may include bone grafts or cheek implants, can begin around age 16, the same time that follow-up jaw (orthognathic) and chin (genioplasty) surgery can be performed, if required. Orthodontic treatment should be completed in advance of jaw surgery to help position the teeth in the proper orientation, and wisdom teeth will likely need to be extracted by an oral surgeon. Depending on the unique needs of the child, nose surgery (rhinoplasty and/or septoplasty) may also be recommended to open the nasal airway. While many operations will occur around the same age range for all patients, the specific timeline and operative plan for each child will be custom-designed to suit their unique indicators.

What is the recovery process like?

As the signs and symptoms can vary in prominence and complexity, the recovery process will depend on the treatment plan. Additionally, every child’s rate of healing will be unique. In the event distraction osteogenesis is performed, the patient will need to remain in the PICU (Pediatric Intensive Care Unit) for a few days before spending between two and four more days, on average, recovering in the hospital. Dr. Payne will go over the instructions for at-home care, which will include consuming a liquid and soft-food diet for several weeks. With some procedures, the child may be able to return home the same day, while others will necessitate a longer stay in the hospital, depending on the intricacy of the surgical technique and the age of the child. Our highly trained medical team is committed to the care, comfort, and results of the children we treat as well as their families. We believe communication and support are essential, and we encourage families to reach out to us with any questions they may have.

For more information about Treacher Collins syndrome and Nager syndrome, please contact our practice today. Our compassionate and knowledgeable team can answer questions or help you schedule a consultation with Dr. Payne.