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Glossary: Types of Craniosynostosis

Apert’s syndrome: A craniofacial abnormality characterized by an abnormal head shape, small upper jaw, and fusion of the fingers and toes.

Brachycephaly: A birth defect characterized by the disproportionate shortness of the head. It is caused by a premature fusing of the coronal suture. Brachycephaly is commonly associated with a number of syndromes, such as Apert’s, Crouzon’s, Pfeiffer’s, Saethre-Chotzen, and Carpenter’s. Deformational brachycephaly can also occur from infant positioning during sleep.

Crouzon’s syndrome: A birth defect characterized by abnormalities in the skull and facial bones, caused by a fusing of both sides of the coronal suture. This syndrome often causes the skull to be short in the front and the back. Flat cheek bones and a flat nose are also typical of this disorder.

Encephalocele: A condition characterized by a protrusion of the brain or its coverings through the skull.

Kleeblattschadel syndrome: A birth defect characterized by abnormalities of the skull and facial bones. It is caused by a premature fusing of the fibrous sutures. Also called “cloverleaf skull.”

Oxycephaly: A birth defect characterized by abnormalities in the skull and facial bones. This syndrome causes the top of the skull to be pointed or cone-shaped. It is caused by a premature fusing of the coronal and sagittal sutures. Also known as turricephaly or high-head syndrome.

Pfeiffer's syndrome: A birth defect characterized by abnormalities of the skull, hands, and feet. This syndrome results in wide-set, bulging eyes, an underdeveloped upper jaw, and a beaked nose due to the head being unable to grow normally.

Pierre Robin syndrome: A birth defect characterized by abnormalities in the facial bones, resulting in a smaller than normal lower jaw or receding chin. The tongue often falls back in the throat causing difficulty breathing.

Plagiocephaly: A misshapen (asymmetrical) shape of the head (cranium) with flatness on the back of the head (posterior) or forehead (anterior).

Saethe-Chotzen syndrome: A birth defect characterized by an unusually short or broad head. In addition, the eyes may be spaced wide apart and have droopy eyelids, and fingers may be abnormally short and webbed.

Scaphocephaly: A head shape that is long and narrow. Scaphocephaly most commonly results from early fusion of the sagittal suture. This suture runs front to back, down the middle of the top of the head.

Torticollis: Also known as wryneck, is a twisting of the neck that causes the head to rotate and tilt at an odd angle. It most often results from tightness of one of the neck muscles.

Trigonocephaly: A triangular configuration of the skull. It is caused by the premature fusion of the two halves of the frontal bones at the metopic suture, which extends down the middle of the forehead toward the nose.

 

Craniosynostosis Resources:

Pediatric Neurosurgery | Craniosynostosis

Johns Hopkins neurosurgeon, Dr. Edward Ahn answers questions about what craniosynostosis is, how it is diagnosed and treated, what the prognosis is for children with the condition, and why you should consider Johns Hopkins for treatment.

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Craniosynostosis | Jack's Story

Born with pediatric craniosynostosis, Jack had minimally invasive surgery as an infant, performed by pediatric neurosurgeon Dr. Edward Ahn.

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Listen to pediatric neurosurgeon Dr. Edward Ahn talk about positional plagiocephaly and craniosynostosis in infants.

Watch the recording of Dr. Ahn’s online discussion about craniosynostosis.

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