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Houston Cranio Facial

Hemifacial Microsomia/Goldenhar Syndrome

Hemifacial microsomia and Goldenhar syndrome are two disorders that fall under a broader spectrum of conditions known as craniofacial microsomia. Craniofacial refers to the skull and facial structures, and microsomia refers to smaller than standard body parts. Children with these deformities will have features of the lower face that are underdeveloped, particularly the ear and the jaw, although the eye, cheek, and neck may also be involved. The cause of hemifacial microsomia and Goldenhar syndrome is unknown. For some, there is a genetic component. In others, the abnormalities occur spontaneously. Furthermore, there is a wide range of signs and symptoms, and the severity can also vary dramatically. With each child, Dr. Eric Payne will identify the factors unique to the individual and develop a personalized treatment plan with their needs in mind. As an extensively trained craniofacial plastic surgeon, he and his multispecialty team are dedicated to excellence of care and providing a compassionate, supportive environment for patients and their families.

We offer state-of-the-art diagnosis and treatment of hemifacial microsomia, Goldenhar syndrome, and other birth defects. If you have questions about these conditions, or if you would like to schedule a consultation with Dr. Payne, please contact us today.

What is Hemifacial Microsomia?

“Hemi” means half, and in hemifacial microsomia, only half the face – typically the lower half – will be affected. Children with this disorder may have a partially formed or missing ear, the cheeks and mouth can be severely underdeveloped, and the jaw may be malformed, underdeveloped, or missing. Hemifacial microsomia routinely occurs where there is no family history of the condition; however, some patients do have a genetic predisposition to this birth defect.

What is Goldenhar syndrome?

Goldenhar syndrome is similar to hemifacial microsomia in that it’s a craniofacial condition that leads to underdevelopment of the facial structures. In patients with this disorder, one or both sides of the face may be deformed in ways analogous to hemifacial microsomia. Additionally, Goldenhar syndrome typically affects the appearance and function of the eyes. In some cases there may be a small or non-seeing eye, and there will be growths called epibulbar dermoids on the eyes. Neck problems are also common with this abnormality. As with hemifacial microsomia, Goldenhar syndrome may have a genetic component, but more commonly it will happen in families with no history of the condition.

How do these conditions occur?

The cause or causes of hemifacial microsomia and Goldenhar syndrome are unknown. While some families seem to show a genetic predisposition to the condition, the gene or genes associated with the disorders have not been identified. When parents have a child with one of these syndromes, they may be worried that they did or did not do something during pregnancy that resulted in the birth defect—but this is not the case. In many instances, the disorder develops in the first trimester of the pregnancy. There are a few theories why, but currently there’s no medical consensus.

Can they be passed on through the family?

The genetic nature of these conditions is not well understood. The chance of passing these disorders on is very small. There is also evidence to suggest that hemifacial microsomia and Goldenhar syndrome can be autosomal dominant disorders, autosomal recessive disorders, or spontaneous. This means that a single parent may carry a copy of the gene that they pass on, and then the child has the disorder (dominant). In some cases both parents will have a genetic predisposition to one of the conditions and no signs, but their child will have the syndrome (recessive). However, anyone born with hemifacial microsomia or Goldenhar syndrome has a slightly higher chance of transferring the abnormality on to their children, though the risk is still only about three percent. A geneticist referral and evaluation is important for determining the type of genetic predisposition of the child.

What are the signs and symptoms of hemifacial microsomia and Goldenhar syndrome?

Signs stemming from these two conditions can range from mild to severe. There are many overlapping features between hemifacial microsomia and Goldenhar syndrome, and a few that make them distinct from one another. Dr. Payne will review the particulars of your child’s case with you when developing a treatment plan.

Signs and Symptoms of Both Disorders:

  • Underdeveloped lower face, including the cheeks, mouth, and jaw
  • Partially formed or missing ear (microtia or anotia)
  • Partially formed or missing lower jaw
  • Hearing loss
  • Skin tags near the ear or jaw line
  • Malocclusion (bite misalignment)

Signs Exclusive to Hemifacial Microsomia:

  • Face will be underdeveloped on one side only

Signs Exclusive to Goldenhar Syndrome:

  • Face can be underdeveloped on both sides
  • Epibulbar dermoids (benign growths on the eyes)
  • Small or non-seeing eye
  • Facial clefts can occur
  • Fusion of neck vertebrae or bony bridges between the cervical vertebrae

Hemifacial microsomia and Goldenhar do not affect intelligence, but hearing problems are not uncommon where the ear or ears are deformed or missing. Obstructive Sleep Apnea (OSA) can also occur if the jaw is severely underdeveloped or missing and the tongue falls over the airway during sleep. Other breathing problems can also occur due to lack of jaw formation. Dr. Payne will inform you of any other considerations you should be aware of regarding your child.

What are the treatment options?

Both disorders will have relatively similar treatment plans with modifications made to suit the indicators and degree of severity. Dr. Payne and his skilled medical team understand that undergoing surgery can be a highly emotional experience for families, and they are dedicated to keeping parents well informed about each step of the process. Every individual receives a customized treatment plan tailored to the deformity, and we will provide details, answer questions, and offer support along the way.

Typically the procedures will be performed in three stages, beginning with a technique called distraction osteogenesis. This operation is a type of jaw advancement surgery that helps position the structures of the mouth in a way that allows for more normal development and natural breathing. If your child has breathing problems, this approach or another option, such as the placement of a tracheostomy tube, may be performed soon after diagnosis; however, in less severe cases this operation usually will be completed around five to six years of age. At this point, any other facial reconstruction surgeries may occur at the same time or as separate events. Cheekbones that are severely underdeveloped may be rebuilt using bone grafts. For children with facial clefts due to Goldenhar syndrome, Dr. Payne will repair the skin and soft tissue at three to six months of age. For epibulbar dermoids of the eye, a pediatric ophthalmologist will be involved to treat the eyes.

Ear reconstruction, the second stage of treatment, typically will begin when the patient is around seven to nine years old. Cartilage can be rebuilt using bone grafts that come from the child’s rib or hipbone. If possible, hearing can be improved with inner ear surgery, or an external hearing aid or Bone Anchor Hearing Aid (BAHA) may be recommended. Dr. Payne works closely with an ENT Ear, Nose, and Throat) surgeon to reconstruct the ear.

The final stage of surgery is designed to normalize the jaw shape and position, and it usually occurs at about age 15 or 16. If the jaw is severely undersized or missing, bone grafts taken from the hipbone can be used to restore the structure. Before this operation can take place, orthodontia will be used to correct major bite alignment issues. Wisdom teeth may need to be extracted in advance as well. Follow-up orthodontic treatment may be recommended, depending on your child’s unique needs and aesthetic goals. It’s not unusual for there to be some muscle weakness on the affected areas of the face, although this should not significantly impact the individual’s life.

What is the recovery process like?

As every version of hemifacial microsomia and Goldenhar syndrome is unique, the treatment plan and recovery process will also depend on which techniques are utilized. If a child must undergo surgery in the first few years of their life, they will typically spend a few days in the Pediatric Intensive Care Unit (PICU), followed by a few days in the hospital. Dr. Payne will outline any special care instructions to the parents regarding the healing process. Once jaw surgery is performed, fluids will be provided intravenously first, and then a liquid and soft-food diet will be instituted. Maintaining a high-level of nutrition is important during this period, and many patients find colorful foods and juices more appetizing. Downtime after other facial reconstructive procedures will depend on the techniques used and whether the operation occurred alone or as part of a series of treatments. Reconstructed ears will also take time to heal, and the areas of the body where grafts were taken will be recovering as well. It’s normal to have many questions throughout this experience, and our team will make every effort to provide the information and assistance you need to manage care after surgery.

If you would like to know more about hemifacial microsomia and Goldenhar syndrome, please contact our office today. We can answer your questions and help you schedule a consultation with Dr. Payne.