Craniofacial Microsomia (CFM) is a congenital condition characterized by the underdevelopment of various facial structures, resulting in marked facial asymmetry. It is the second most common birth defect affecting the face. CFM primarily affects the skull and face, causing differences in size and shape between the right and left sides of facial structures. This condition can affect various facial components, including the ears, jaw, eyes, cheeks, and neck bones.
The facial structures most commonly affected by CFM include:
Ears: Microtia (small ear) or anotia (absent ear), hearing loss, and skin tags in front of the ear.
Jaw: The lower jaw of the affected side is typically small and hypoplastic.
Eyes: Possible issues include missing or small eyes, epibulbar dermoids (cystic swelling around the eyes), and vision problems.
Face: CFM can lead to a flattened forehead or cheek, facial nerve palsy (resulting in muscle paralysis on one side of the face), and underdeveloped facial muscles.
Mouth: Cleft lip or palate may be present, leading to difficulties in speaking, swallowing, or eating.
Teeth: Dental issues can include abnormally shaped or missing teeth, delays in tooth development, and malocclusion.
The diagnosis of CFM is primarily based on the characteristic features of the face and can be confirmed through supplementary investigations. Diagnostic procedures may include:
Clinical Evaluation: A thorough examination of the child’s face and its features.
MRI Brain: In selected cases, an MRI of the brain may be performed.
CT Scan of the Face: Used for planning bony reconstruction.
Echocardiogram: To rule out heart defects.
Renal Ultrasound: To assess kidney health.
Spine X-ray: To examine the spine for any defects.
Currently, there is no medical treatment or medication available to correct the underlying deformities of CFM. Treatment mainly involves surgical intervention, and multiple stages of surgeries may be required as the child grows. The specific problems associated with CFM are addressed as follows:
Cleft Lip and Palate Repair: Surgery is typically performed when the child is 3 months to 1 year old for cleft lip repair and around 9 months for palate repair. Ear tags can also be removed during these surgeries.
Dental Procedures: As the child grows, dental problems may arise, including tooth extraction and adjustments to address decay, overcrowding, and alignment issues.
Ear Reconstruction: For microtia or anotia, ear reconstruction can be performed around the age of 8 years using rib cartilage to enhance the appearance of the affected ear. This often involves multiple stages.
Cochlear Implants: If hearing issues are present, cochlear implants may be placed in the inner ear by an Ear, Nose, and Throat (ENT) specialist.
Dental Implants: Missing or extracted teeth can be replaced with dental implants performed by an experienced dental surgeon.
Eye-Related Procedures: For eye deformities, interventions may include the implantation of artificial eyes and enlargement of small eye sockets.
Jaw Deformity Correction: The lower jaw, often underdeveloped, may require surgical correction. Options include jaw lengthening with distraction osteogenesis or single-stage jaw advancement surgery.
Jaw Lengthening with Distraction Osteogenesis: This procedure involves gradually advancing the lower jaw using an internal or external distractor after cutting the jawbone. Typically performed in severe cases.
Single-Stage Jaw Advancement Surgery: This involves a one-time surgical advancement of the lower jaw using Bilateral Sagittal Split Osteotomy (BSSO).
Soft Tissue and Bone Reconstruction: To restore facial symmetry, reconstructive surgery with the use of bone grafts and flaps may be necessary.
Facial Reanimation Surgery: This procedure helps improve facial symmetry and restore/optimize facial movement.
Orthodontic Treatment: Preoperative or postoperative orthodontic treatment may be required to optimize results.
Hearing Aids: Mild hearing defects may necessitate the use of hearing aids.
Speech Therapy: For speech defects, speech therapy may be recommended to improve communication skills.
While CFM does not typically decrease the life span of affected individuals, it can significantly impact their quality of life. Patients with CFM often require strong family support and may benefit from psychological counseling to cope with the psychological stresses associated with the condition.
The exact cause of CFM remains unknown, although it is believed to originate during the first trimester of pregnancy, possibly due to vascular problems affecting the fetus’s facial blood supply.
The condition is generally not hereditary but can be influenced by environmental factors, such as certain medications taken by the mother during pregnancy.
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Craniofacial Microsomia (CFM) is a congenital condition characterized by underdevelopment of one side of the face, particularly the ear, jaw, and cheek. It can vary in severity from mild to severe.
Diagnosis involves a clinical examination, imaging studies like CT scans or MRI, and sometimes genetic testing to confirm the presence and extent of CFM.
Treatment options may include reconstructive surgery, orthodontic treatment, speech therapy, and hearing aids, depending on the specific needs of the individual.
Kayakriti Clinic specializes in CFM management with a focus on precision surgery, personalized treatment plans, and rehabilitation. Their approach includes a team of experts experienced in craniofacial surgery.
Kayakriti Clinic offers a patient-centric approach to CFM treatment, providing pre-operative assessments, surgical precision, and post-operative care to optimize outcomes and facial function.
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