Hemifacial Microsomia/Craniofacial Microsomia

1. What is Hemifacial Microsomia (HFM)? – (also called Craniofacial Microsomia (CFM)

Hemifacial Microsomia is a congenital birth defect causing the lower half of one side of the face to become underdeveloped or have a shorter appearance. The jaw bone on one side of the face does not grow at the same rate as the non-affected side of the face. Often times, an individual having Hamifacial Microsomia will have a crooked smile and an indentation on the side of the face that is affected (a concave dent within the skull). Hemifacial Microsomia may sometimes be referred to as first and second Brachial Arch Syndrome, Oral-Mandibular-Auricular Syndrome, Lateral Facial Dysplasia, and Otomandibular Dysostosis Arch Syndrome. Individuals having Hemifacial Microsomia almost always have an underdeveloped ear (Microtia), an underdeveloped mandible (jaw bone), and often times is accompanied by a missing ear canal (Aural Atresia) and a hearing loss in that ear. Hemifacial Microsomia is known to be the second most common birth defect of the face next to cleft palates.

2. Is Hemifacial Microsomia genetic?  No.

There are many families who give birth to a child with Hemifacial Microsomia when no one on either side of the family has ever had Hemifacial Microsomia (HFM)as far back as history can show. Hemifacial Microsomia is very similar to Microtia and Atresia which also does not appear to be present in the bloodline for many families. It appears to be a randomly occurring event or anomaly that happens during early development. Hemifacial Microsomia can affect either the right or the left ear. One child may be born with HFM where his/her twin sibling may not show any signs of having HFM.

What if I already have HFM or already have a child with HFM, could I have another child with Hemifacial Microsomia? It is always possible, but is a very low chance of occurring again. For a mother who already has a child with HFM, the chances of having another child with HFM are between 0% and 1%. For a parent who already has HFM, the chances of having child with HFM is approximately 3%. However, there are families who have a child with HFM and for generations have not passed this on to any other family member in the blood line.

Currently, there is no sound scientific evidence that can say or show that Hemifacial Microsomia is completely genetic and occurs during the early stages of development during the first trimester (during the first 6 to 8 weeks). Some believe that a possible change in the blood supply to the first and second branchial arches can cause HFM. There is also no evidence suggesting that HFM is caused by the environment such as the mother eating something or exercising before or during her pregnancy.

3. Can my child have surgery?  Yes.

Your child can have surgery through the help of a couple of specialists.

Craniofacial Surgery:

A craniofacial surgeon can help your child with jaw reconstructive surgery through the use of bone grafts that can help lengthen his/her jaw. It is often suggested to wait for this type of surgery until after the pubescent years, anywhere from age thirteen to seventeen. The reason for waiting is because your child is still developing and their skull and face is still growing. It is best to wait until the bone growth has become more stable. However, it is strongly suggested to begin taking your child to a pediatric craniofacial surgeon following his/her birth. It is possible the surgeon may consider using a jaw distraction insert which can be used on children at early years of age and helps to stretch their jaw bone a bit more or to help prevent their jaw bone from pulling upward more as he/she continues to grow. Regardless, please know that you can have surgery for your child that will help to straighten their jaw line out. It is also important to take your child to a craniofacial surgeon as some children have difficulty eating and breathing because of their crooked jaw line. A surgeon can help explain what options you have that can help your little one be more comfortable until you are ready for surgery if that is something that you are considering for your child.

Rib Graft and Medpor Ear Reconstructive Surgery:

Another surgery that may be considered to help your child is ear reconstructive surgery. There are currently tow techniques to choose from: Rib Graft which involves taking a section of your child’s rib to construct a cartilage framework that is then shaped into an ear and then is covered by a skin graft. Rib Graft surgery can be achieved anywhere from one stage to four or more depending on the difficult of the surgery. Some issues that may require additional stages of surgery are: dealing with a higher or lower hair line and making sure that the newly reconstructed ear is centered and symmetrical to the biological non-affected ear due to the concave indention of the skull from HFM. A Rig Graft ear will feel pain, experience bleeding, and heal. The earliest age for Rig Graft surgery is age five. However, it is more common during the ages between six and ten. There are some Rig Graft surgeons who can perform surgery in just one stage.

For Medpor, some of the same circumstances will be taken into consideration. However, Medpor surgery can be achieved in one stage of surgery. Medpor differs from Rib Graft by not requiring a rib graft. In place of the rib graft tissue, a synthetic framework is used that is made up of a porous polyethylene material. The already shaped Medpor ear is then sculpted a bit more to match the other biological ear that is not affected and is then covered with a skin graft. A Medpor ear will feel pain, experience bleeding, and heal. Medpor surgery can be performed as early as age three.

Maxillofacial Surgery:

Depending on the severity of HFM, it may be necessary to build up parts of the cheekbone if needed through facial plastic surgery to help provide a better symmetry to the face.

Helpful Resources and Readings

Brent, B. (1999). “Technical advances in ear reconstruction with autogenous rib cartilage grafts—a personal review of 1,200 cases.” Plast. Reconstr. Surg 104: 319.

Brown, David (Sept. 13, 2006). “Panel Discounts Existence of Unique Gulf War Syndrome; High Rate of Symptoms Is Clear, However.” The Washington Post. Washington, D.C., pg. A10.

Children’s Craniofacial Association (2005). “A Guide to Understanding Hemifacial Microsomia.” (PDF).  www.ccakids.com

Goldberg, MJ. “Goldenhar Syndrome: Oculoauriculovertebral Dysplasia.” www.ameriface.org

Grealy, Lucy (1994). Autobiography of a Face. New York: HarperCollins.

Johns Hopkins University School of Medicine (2001). “ Hemifacial Microsomia.” More

Kiefer, J., Arnold, W., & Staudenmaier, R. (2006 Oct). “Round Window Stimulation with an Implantable Hearing Aid (Soundbridge®) Combined with Autogenous Reconstruction of the Auricle – A New Approach.” ORL : Journal for Oto – Rhino – Laryngology and Its Related Specialties. Vol. 68, Iss. 6; pg. 378.

The National Craniofacial Association, “Goldenhar Syndrome.”
http://www.faces-cranio.org/Disord/Golden.htm

or www.faces-cranio.org

Goldenhar Family Support Group, http://www.goldenhar.org.uk/

Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, & Martin AO. (1987 Feb). “Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.” Am J Med Genet. 26(2):361-75.
Goldberg, MJ. “Goldenhar Syndrome: Oculoauriculovertebral Dysplasia.”  www.ameriface.org

Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, & Martin AO (1987 Feb). Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet. 26(2):361-75. More

Feingold M., Baum J. (1978). “Goldenhar’s syndrome.” Am J Dis Child 132: 136–38; http://www.ccakids.com/assets/syndromebk_hemifacial.pdf

Brown, David (Sept. 13, 2006). “Panel Discounts Existence of Unique Gulf War Syndrome; High Rate of Symptoms Is Clear, However.” The Washington Post. Washington, D.C., pg. A.10. More

Mounoud RL, Klein D, Weber F. (1975). A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy. J Genet Hum. Jun;23(2):135-54.

Rollnick B., Kaye C, Opitz J. (1983), Hemifacial microsomia and variants: Pedigree data, Am J Med Genet., Volume 15, Issue 2 , pp 233-53; http://www.ccakids.com/assets/syndromebk_hemifacial.pdf