Diagnosis of Cleft and Craniofacial Disorders

When a prospective patient comes to Barrow Children's Cleft and Craniofacial Center, he or she meets with the craniofacial team. During this consultation, team members perform an examination, order the appropriate diagnostic tests, diagnose the condition, and prepare to develop a treatment plan. Cleft and craniofacial disorders are diagnosed by evaluating the patient's anatomical structures, medical history, development, radiographic studies, and results from genetic testing. 

Accurate and timely diagnosis can have extremely significant implications for patients' health and long-term quality of life. Prospective patients should schedule a focused craniofacial visit if they have one of the following symptoms:

• The face is asymmetric in some way or is missing anatomical features
• The shape of the head is unusual
• The face appears to be unusually flat
• Facial irregularities make speech or chewing difficult
• A child exhibits signs and symptoms of intracranial pressure including a full or bulging fontanel (soft spot located on the top of an infant's head), excessive sleepiness compared to other infants of the same age, and excessive irritability or inability to be comforted compared to other infants of the same age.

Diagnostic Tests

Radiology studies are typically ordered by the surgical team for diagnostic purposes and to plan surgical intervention. Some examples of such diagnostic radiology tests include:

• Dental and/or skull x-rays
• Computed tomography (CT) scans
• Three-dimensional CT
• Magnetic resonance imaging (MRIs)
• Three-dimensional CT modeling of the skull

Blood tests are often ordered to determine if a genetic disorder exists. Based on family and medical history and the patient's presenting signs and symptoms, a geneticist recommends the most appropriate type of chromosomal analysis or genetic test for the patient. The genetic test verifies whether the patient's craniofacial disorder is associated with a genetic defect. Other blood tests may be ordered to rule out other possible causes for the cleft or craniofacial disorder.

Referrals and Consultations

The Barrow Children's Cleft and Craniofacial Team may refer the patient to other specialists, such as cardiologists, endocrinologists, gastroenterologists, neurologists, or pulmonologists, as needed. 

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