Pfeiffer syndrome is a rare genetic form of craniosynostosis — the early closing of one or more of the soft, fibrous seams (sutures) between the skull bones.

This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Your child may require several treatments and surgeries to repair these anomalies. According to the National Craniofacial Association, a parent with Pfeiffer syndrome has a Type 1 Pfeiffer syndrome is characterized by premature fusion of the skull, finger and toe abnormalities, and sunken cheekbones. The treatment that is usually used consists of a variety of surgeries and medications to help correct the deformities and manage the symptoms. The atypical gene may be inherited from one parent, or it can result from a new gene mutation in the child.The majority of people with Pfeiffer syndrome develop it from a new mutation because neither parent has a gene mutation that could be passed on. Depending on the severity of the disorder, your child may require some or all of the following surgeries: In … The doctors at the International Craniofacial Institute provide total care for patients affected by this syndrome, in addition to love and support for their family members. Other face structure surgery, including the cheekbones and jaws, and surgery on the child’s webbed hands and feet, are carried out when the child is older.Some children will need treatments to manage their breathing problems, which may involve:Some children may need dental work to repair teeth and underbites. Pfeiffer Syndrome is a rare genetic disorder that affects the shapes of the face and head of patients. Because Pfeiffer syndrome involves the skull and face, it can also affect your child’s hearing, feeding, speech and dental functions. Boston Children’s Hospital provides the most advanced treatments available for Pfeiffer syndrome and other craniofacial anomalies, including:For families residing outside of the United States, please call Boston Children's Because Pfeiffer syndrome involves the skull and face, it can also affect your child’s hearing, feeding, speech and dental functions. Treatment includes surgery and dental work to relieve some symptoms and features. The syndrome affects how your baby’s head, face, hands and feet look and work. Pfeiffer Syndrome is characterized by the premature fusion of certain bones of the skull, that results an abnormal shape of face and head. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. A child’s neurological development and intellectual ability are usually on a par with other children.People with type 1 Pfeiffer syndrome may have fluid buildup in the brain and Type 2 causes severe neurological deficits, has a poor prognosis and often results in early death.Type 3 Pfeiffer syndrome causes the same kinds of disabilities as type 2, except for the cloverleaf skull. But in the case of Pfeiffer syndrome, the plates pull together too soon, and the skull cannot expand in time with the growing brain, which causes abnormal face and head shaping.Autosomal genetic disorders only require a single copy of an atypical gene to cause the disorder. #1 Ranked Children's Hospital by U. S. News & World Report

Pfeiffer is pronounced FY-fer. The cause of Pfeiffer syndrome is a mutation of the genes responsible for prenatal bone development. Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This article discusses Pfeiffer Syndrome symptoms with pictures, it’s causes and treatment options. Because this condition also involves the skull and face, it may also affect child’s hearing, speech, feeding and dental functions. Pfeiffer syndrome is a birth defect that causes problems with bones in a baby’s skull, face, fingers, and toes. Your child may require several treatments and surgeries to repair these anomalies. Others may need speech and language therapies.People with type 1 Pfeiffer syndrome can have normal lifespans, provided they do not suffer from disease complications and undergo successful treatment.People with types 2 and 3 have severe forms of this disorder and tend to have shorter life expectancies due to respiratory problems and neurological complications.Effective treatments tend to revolve around surgery.© 2004-2020 Healthline Media UK Ltd, Brighton, UK, a Red Ventures Company. Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face.In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes).

The outlook for people with type 3 Pfeiffer syndrome is also often poor and may result in early death.In addition to physical abnormalities, including skull fusion, fused elbow and knee joints, and finger and toe disabilities, Pfeiffer syndrome may also cause the following symptoms:A diagnosis of Pfeiffer syndrome is made using imaging studies and a physical exam to confirm the presence of premature bone fusions in the skull, fused elbow and knee joints, and finger and toe abnormalities.Other genetic conditions may need to be ruled out, and doctors will usually carry out molecular genetic testing to confirm gene mutations.Children with Pfeiffer syndrome often endure multiple complex surgeries to repair skull and joint deformities.Surgery to release the prematurely fused skull is undertaken within the child’s first year of life to promote the normal brain and skull growth.Surgeons can also repair the child’s eye sockets at the same time to preserve their vision.