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About Cleft and Craniofacial Disorders

Barrow Neurological Institute of St. Joseph's Hospital and Medical Center, Phoenix, Arizona

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Cleft and craniofacial disorders are abnormalities of the skull and face. Most are congenital (present at birth), and their type and severity vary widely. Some cleft and craniofacial disorders are mild while others are severe enough to require reconstructive surgery. If treated early, patients with these abnormalities can lead normal lives. For appropriate diagnosis, treatment, and follow-up, these conditions require the input and involvement of a multidisciplinary team of specialists.

Severe head and face abnormalities can significantly affect a patient's appearance and life functions, such as eating and vision. The Barrow Children's Cleft and Craniofacial Center offers excellent diagnostic testing, surgery, inpatient care, and outpatient services for both syndromic and nonsyndromic abnormalities. Such craniofacial abnormalities include facial clefting, craniosynostosis, abnormal head shape, various syndromes and disorders, tumors, and abnormalities from traumatic injuries of the head and face.

The most common craniofacial disorders are facial clefting and craniosynostosis. Other less common disorders are syndromes with disproportionate craniofacial features such as congenital microtia (small ear) and atresia (missing ear) and syndromes with proportionate features such as Treacher Collins' syndrome (mandibulofacial dysostosis), Miller or Wildervanck-Smith syndrome, Nager syndrome, Mobius' syndrome, and Pierre Robin (including velocardiofacial, Shprintzen, and DiGeorge sequence) syndrome.

Cleft Lip and Cleft Palate

Cleft lip results from vertical fissures (clefts) in the upper lip. The clefts can be one-sided or two-sided. Cleft palate is an opening in the roof of the mouth, or palate, that can vary in location (hard or soft palate), size, and severity. Cleft lip and palate may result from failure of the lip or palate to fuse completely during embryonic development.

Craniosynostosis

At birth an infant's head is normally composed of several bony plates separated by fibrous joints called sutures. As an infant grows and develops, these bony plates fuse at the sutures, forming the skull as a single, solid bony structure. Craniosynostosis, which occurs in one of every 2,000 live births, is the premature closure of one or more sutures in the head.

Premature closure of the sutures constrains the growing brain, forcing it to push outward in other directions, causing an unnatural head shape. Complications from craniosynostosis may include increased intracranial pressure with decreased cerebral blood flow, hearing and vision abnormalities, and intellectual impairment. (Reference 1).

Types of Craniosynostosis

Plagiocephaly, the most common type of craniosynostosis, occurs when the coronal suture—the suture that divides the forehead area from the rest of the skull—closes prematurely on one side. The right or left side of the suture fuses, causing the forehead and brow to stop growing. The result is a flattening of the forehead and brow on the affected side. The forehead on the opposite side tends to be excessively prominent. The eye on the affected side may be misshapen, and the back of the skull may be flattened.

In another form of the disorder, one side of the lambdoid suture fuses, causing flattening at the back of the skull.

Plagiocephaly also may result from an infant sleeping in one position (positional plagiocephaly). In this case, the affected part of the skull tends to flatten out. Intervention is seldom needed for positional plagiocephaly.

Trigonocephaly is caused by the premature closure of the metopic suture, which runs from the top of the head down the middle of the forehead, toward the nose. It results in a pointed forehead with a prominent ridge and closely placed eyes.

Scaphocephaly, also known as dolichocephaly, is caused by the premature closure of the sagittal suture, which runs from front to back, down the middle of the top of the head. This fusion causes a skull that is long from front to back and narrow from ear to ear.

Brachycephaly is a disproportionate shortness of the head caused by premature closure of the coronal suture.

Turricephaly is also known as oxycephaly, acrocephaly, hypsicephaly, steeple skull, or tower skull. It is an abnormally high, peaked, or conical skull caused by premature closure of the lamboid and coronal sutures.

Triphyllocephaly is caused by multiple suture synostoses and is characterized by a cloverleaf or trefoil head shape.

Multiple suture craniosynostosis involves more than one suture and may be caused by any one of a number of syndromes. The most common syndromes resulting in multiple suture craniosynostosis include Apert's syndrome, Crouzon's syndrome, Pfeiffer syndrome, Goldenhar's syndrome, Saethre-Chotzen syndrome, and Carpenter's syndrome.

Reference
1. Aleck K: Craniosynostosis syndromes in the genomic era. Semin Pediatr Neurol 11(4): 256-261, 2004.