Craniofacial Disorders

Below are common craniofacial disorders and a description of what each are. The Beaumont Children’s team of craniofacial specialists works together to create a customized and comprehensive treatment plan for every craniofacial patient.

Apert Syndrome

Apert syndrome is a craniofacial disorder involving abnormal growth of the skull and the face during the early fusion of certain sutures of the skull. Children with Apert’s have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Among other abnormalities, children with Apert’s have webbed fingers and toes.

Cleft Lip/Palate

Cleft lip and/or palate is a craniofacial disorder that creates a separation of the parts or segments of the lip or roof of the mouth, which are usually joined together during the early weeks in the development of an unborn child.

A cleft lip is a separation of the two sides of the lip and often includes the bones of the maxilla and/or the upper gum. A cleft palate is an opening in the roof of the mouth, and can vary in severity. A cleft palate occurs when the two sides of the palate do not fuse as the unborn baby develops.

Craniosynostosis

Craniosynostosis means fused bones of the skull. It is a craniofacial disorder that some children are born with or later develop. To better understand craniosynostosis, it is helpful to know that our skulls are not made up of one single “bowl” of bone. Instead, different bones that fit together with a jigsaw puzzle make up the skull. The areas where the bones meet one another are called sutures.

As a baby grows the brain rapidly increases in size. According to current theories of growth, the growing brain pushing on the bones of the skull causes the skull bones to expand or grow. When one of these sutures is fused too early, it is called craniosynostosis. There will be no growth in this area. The inability to grow in one area may lead to overgrowth in another area. This results in an abnormally shaped skull.

There are numerous types of craniosynostosis. Different names are given to the various types, depending on which suture, or sutures, are involved.

Crouzon Syndrome

Crouzon syndrome is a craniofacial disorder in which sutures in the head are prematurely fused resulting in abnormal growth of the skull and face. Children with Crouzon’s have bulging eyes due to abnormal growth of the midface. They may have a receding upper jaw and protruding lower jaw. They may have problems with teeth due to abnormal jaw growth.

Facial Cleft

Facial Cleft is a rare condition in which there are areas of absent bone and sometimes overlying skin that may occur either on one or both sides of the face.

Facial Paralysis

Facial paralysis means loss of voluntary muscle movement of one side of the face. Facial paralysis can be a symptom of many conditions, including Bell’s palsy (inflammation of the facial nerves), strokes, brain tumors, brain infections, trauma during birth and others. In children, facial paralysis may occur from ear infections, Lyme disease, or trauma to the head or face.

Hemifacial Microsomia/Goldenhar Syndrome

Hemifacial Microsomia/Goldenhar Syndrome is a craniofacial disorder in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear. In Goldenhar syndrome benign growths of the eye (epibulbar dermoids) are present. Children with Goldenhar syndrome may also have neck problems, which are most commonly caused by a fusion or bony bridges between the bones of the neck.

Treacher-Collins

Treacher-Collins is a craniofacial disorder in which the cheekbones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheekbones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.

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