Cleft and Craniofacial Disorders
Cleft and craniofacial disorders describe abnormalities of the head and face. Many of these disorders are present at birth (congenital). They can affect physical appearance and important functions, such as eating and eyesight. Severe disorders may require reconstructive surgery.
Types of Cleft and Craniofacial Disorders
- Cleft lip – This term describes a separation in the lip that occurs when the lip does not form completely. It can range from a small notching in the lip to a large opening from the lip up through the nose.
- Cleft palate – This term describes a separation in the roof of the mouth (palate). It can extend from the front of the mouth (hard palate) to the throat (soft palate) and may include the lip.
- Craniosynostosis – This condition occurs when soft spots in the skull (sutures) close prematurely in an infant, causing problems with normal brain and skull growth. This can lead to abnormal head shape, increased pressure within the skull, hearing and vision problems, and intellectual impairment. Craniosynostosis is present in Apert, Pfeiffer, and Crouzon syndromes.
- Hemifacial microsomia – This condition occurs when tissues on one side of the face are underdeveloped. It primarily affects the ear, mouth, and jaw areas.
- Goldenhar syndrome – This condition is similar to hemifacial microsomia, but people with Goldenhar syndrome may also have neck problems and benign growths on an eye.
- DiGeorge syndrome (22q11.2 deletion syndrome, velocardiofacial syndrome) – This condition is caused by a defect in chromosome 22 and results in the poor development of several body systems. People with this syndrome may have heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and behavioral and emotional problems.
- Treacher Collins syndrome – This condition affects the development of bones and other tissues of the face. Most people with Treacher Collins syndrome have underdeveloped facial bones, particularly cheek bones, and a very small jaw and chin. Symptoms can range from almost unnoticeable to severe enough to cause life-threatening respiratory problems.
How common are cleft and craniofacial disorders?
Cleft lips and palates are the most common craniofacial disorders. It is estimated that each year in the United States, 2,650 babies are born with a cleft palate and 4,440 babies are born with a cleft lip with or without a cleft palate. Cleft lips and palates are among the most common birth defects.
Who gets cleft and craniofacial disorders?
Craniofacial disorders are often diagnosed in young children. Many of these conditions are present at birth and may be caused by genetic defects. Craniofacial abnormalities can also occur as a result of a disease or trauma.
How are cleft and craniofacial disorders diagnosed?
The following tests may be used to diagnose a craniofacial disorder:
- Physical examination
- Dental X-rays
- Skull X-rays
- CT scan
- MRI scan
- Blood tests
A craniofacial disorder may be diagnosed during pregnancy through a routine ultrasound.
Symptoms vary depending on the type and severity of the craniofacial disorder.
General symptoms of craniofacial disorders include:
- Head deformities
- Speech difficulties
- Breathing difficulties
- Dental problems
- Hearing problems
- Vision problems
- Poor self-esteem
Diagnostic tests performed by a medical professional are needed to identify a craniofacial disorder.
Depending on the type and severity of the craniofacial disorder, reconstructive surgery may be recommended to improve physical appearance and important functions, such as eating and breathing.
To treat all aspects of cleft and craniofacial disorders, our multidisciplinary team here at Barrow includes specialists in the following areas:
- Plastic surgery
- Oral surgery
- Speech pathology
- Physical therapy
- Date of last review: August 26, 2015