The Cleft and Craniofacial Surgery Center at Mount Sinai manages a variety of congenital anomalies affecting the structures of the midface, which includes the bones of the nose, cheeks, and upper jaw. Our surgeons are committed to improving your child’s appearance and quality of life.
Hemifacial microsomia (HFM) is a condition in which one or more parts of the face do not develop fully. Commonly involved structures include the ear, the mouth, and the lower jaw. Sometimes, both sides can be affected. HFM usually occurs sporadically (occurs by chance), but may be inherited in some families. It is associated with other syndromes, including Goldenhar syndrome, branchial arch syndrome, facio-auriculo-vertebral syndrome, and oculo-auriculo-vertebral syndrome.
The diagnosis is often made by simple examination of the child with careful attention to those commonly affected areas of the face. There is no blood test to detect HFM. Formal diagnosis may be made by a number of imaging modalities, including ultrasonography, plain radiography, and CT scanning.
The child with HFM may have several areas of the face that need to be addressed. Our Cleft and Craniofacial Surgery Center team evaluates all patients with suspected HFM for associated anomalies. Each specialist contributes to the multidisciplinary treatment plan, based on the severity of the child's specific physical findings. Specific interventions may include closure of the cleft at the corner of the mouth, lengthening of the lower jaw, and reconstructing the outer portion of the ear. Further surgery in the soft tissue of the cheek to increase symmetry or possibly jaw surgery, may be needed when the child reaches adolescence. Each procedure generally takes a couple of hours and children may be discharged home the same night or admitted overnight. After surgery, they are seen for follow-up in one week and then regularly thereafter.
Treacher Collins Syndrome
Treacher Collins syndrome is a genetic syndrome that affects roughly 1 of 10,000 births. Characteristic features of children with Treacher Collins are down-slanting eyes, a small cheek and lower jaw, and misshapen or missing ears. The findings can vary in severity from being very subtle or go unrecognized to the severe cases that may present with related problems.
The diagnosis of Treacher Collins is often made by examination of the child. The ear deformities range from smaller but misshapen ears to complete absence of it. Approximately 40 percent of children will have hearing loss in both ears and require a hearing aid. Children with Treacher Collins may be thought to have decreased intelligence, but they are actually of equal intellect if they are able to hear as well as their peers. The lack of normal bones around the eyes and drooping lower eyelids gives children a sad appearance. Evaluation by an ophthalmologist should be done early for possible dry eyes, which could lead to infections. Underdevelopment of the lower jaw may also be seen and contribute to the characteristic appearance of the face. Formal diagnosis may be made by a number of imaging modalities, including ultrasonography, plain radiography, and CT scanning.
Treatment of the child with Treacher Collins requires a multidisciplinary team working closely together with the family to attain the best functional and aesthetic result possible. In the newborn/infancy period, care and management are aimed at preventing problems with breathing, feeding, and hearing. The timing to correct each of these problems may vary depending on the severity of the presenting conditions. In the absence of adequate hearing, a hearing aid should be fitted as soon as possible, since the sounds that babies hear during the first year play a very important role in speech development.
Repair of the cleft palate is usually performed around one year of age to allow optimal development of speech and language skills. Augmentation of the midfacial bones is performed between three and six years of age using either the child’s own bone from the skull of ribs or a bone substitute. For severe underdevelopment of the lower jaw, lengthening of the bone with a bone graft from the ribs or lengthening the existing bone may be offered. The external ear is usually reconstructed between the ages of six to eight years in a multi-stage process from the cartilage of the rib cage.
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