Microtia Associated Syndromes

Microtia is a congenital deformity where the pinna (external part of the ear) is underdeveloped. It can range from a slight deformity to a complete absence of the ear, a condition known as anotia. Microtia occurs in approximately one out of every 8,000-10,000 births and can be one-sided (unilateral) or affect both ears (bilateral). While it is often an isolated incident, it can also be associated with certain syndromes.

The most common of these are Hemifacial Microsomia (HFM), also known as Goldenhar syndrome, and Treacher Collins syndrome. Both syndromes have distinct profiles but share the common feature of craniofacial microsomia – underdevelopment of one or both sides of the face. In addition to microtia, children with these syndromes can have underdevelopment of the jaw, cheekbones, and soft tissues of the face.

Hemifacial Microsomia is the second most common birth defect after cleft lip and palate. The condition typically affects one side of the face, but can affect both. The degree of facial asymmetry varies from child to child. Some children may require jaw reconstructive surgery for functional concerns such as feeding and breathing, while others may require surgery for aesthetic concerns.

Treacher Collins Syndrome is a rarer disorder characterized by craniofacial deformities. These can include down slanting eyes, underdeveloped cheekbones, and a small lower jaw with a cleft palate. Finding a surgeon for these complex disorders can be daunting. However, surgery is possible and can greatly enhance the quality of life for many people.

Microtia surgery Los Angeles is particularly noteworthy. Skilled surgeons here have experience with complex craniofacial syndromes and a multidisciplinary team approach to care. For example, a child with a craniofacial syndrome may require oversight from a geneticist, audiologist, speech therapist, and psychologist in addition to their surgeon. All this can be found in Los Angeles.

Microtia is also associated with less common syndromes such as Branchio-Oto-Renal (BOR) syndrome, and CHARGE syndrome. BOR syndrome can feature hearing loss, cysts in the neck, and kidney abnormalities. CHARGE syndrome involves a broader array of anomalies affecting the heart, growth, eyes, and genitals in addition to the ear abnormalities and hearing loss.

Corrective surgeries for conditions such as microtia and associated syndromes have come a long way over the years. Rib cartilage grafts, MEDPOR, and 3D printing are just a few of the techniques that have been employed to construct or reconstruct ears in children and adults. The choice of procedure is individual and based on the severity of the microtia, the presence of other syndromes, and the preferences of the patient and their family.

The first steps of the journey in managing and treating microtia and associated syndromes starts with obtaining a proper diagnosis, followed by assembling an experienced and multidisciplinary care team. With the right care, many individuals with microtia and associated syndromes lead full, rewarding lives.