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Craniofacial Syndromes and Their Link to Hearing Loss



Exposure to loud noise, certain illnesses, or ear infections are common causes of hearing loss. For some, hearing loss is present at birth, the result of genetic traits passed down from their parents. Hearing loss may also result from birth defects affecting the head and face. Such conditions are known as craniofacial syndromes, and since they affect proper development of the ear, they often lead to hearing loss, alongside other difficulties.

July is National Cleft and Craniofacial Awareness and Prevention Month, dedicated to raising awareness about these conditions, removing the associated stigmas, ensuring patients receive proper care, and understanding how to prevent them.

Facial syndromes and effects on the ears

Many craniofacial syndromes involve deformities of the ears. These can manifest as small or underdeveloped ear canals or other components of the middle or inner ear, which impede normal hearing. Other syndromes increase the likelihood of middle ear effusion, or the buildup of fluid, which can cause ear infections and other diseases that lead to hearing loss. Even the presence of a cleft palate unconnected to a syndrome can cause hearing loss, since patients often have a greater risk of ear infections.

One of the best known craniofacial syndromes is Treacher Collins syndrome, which can cause both hearing loss and cleft palates. Patients may have small or malformed outer and/or inner ears, which causes the hearing loss. Difficulty hearing is also a common trait in patients with Pierre Robin syndrome. Although this condition commonly causes malformations of the mouth and jaw, 83 percent of patients develop hearing loss due to middle ear effusion.

Other craniofacial syndromes related to hearing loss include Apert syndrome, Crouzon syndrome, Saethre-Chotzen syndrome, velocardiofacial syndrome, and hemifacial macrosomia, each of which involve malformations to the outer, middle, or inner ear.

Treatment and prevention

Treatments for these craniofacial syndromes vary based on the individual condition and severity of symptoms, but will likely involve numerous professionals to address the physical, developmental, and social difficulties patients are likely to experience. In addition to oral and maxillofacial surgeons, ophthalmologists, and speech pathologists, hearing care professionals are also crucial to address hearing loss.

While proper treatment is critical to ensuring individuals with craniofacial disorders have a healthy and happy life, it’s also important to understand how such conditions can be prevented. Women treated for diabetes or thyroid disease while pregnant, or who received certain fertility medications like clomiphene citrate, may have a higher likelihood of delivering a baby with a craniofacial disorder. Therefore, it’s important to speak to a doctor when planning to become pregnant about how these medications could affect the baby. Women who smoke are also at greater risk of having a baby with a craniofacial disorder.

Individuals with craniofacial syndromes are likely to face numerous challenges. However, by raising awareness of these conditions, we can help educate others about these disorders and ensure patients receive the support and care they need.