Most people with Type I Pfeiffer syndrome have a normal life span. People with Types II and III have severe disease and may develop complications that shorten their life expectancy.

Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.

Jackson-Weiss syndrome is a genetic disorder caused by mutations in the FGFR2 gene on chromosome 10. It causes distinctive birth defects of the head, face, and feet.

Children with Pfeiffer syndrome often have learning disabilities, although the severity of these is variable. Many have long term airway and feeding problems associated with learning disabilities.

Most parents who have a baby with Pfeiffer syndrome have normal genes. However, children with Pfeiffer syndrome can pass the gene on to their children. A parent with Pfeiffer syndrome has a 50 percent chance of having a baby who also has Pfeiffer syndrome.

1. A non-specific, often intractable orofacial pain, due to excessive sympathetic nervous system dysregulation, which can induce a chronic vasoconstriction of orofacial tissues.

There is no cure for Pfeiffer syndrome. Treatment will depend on the child’s symptoms. Surgery is the main treatment and may include one or more of the following: Skull surgery: The initial surgery to reshape the child’s head is done as early as three months and by 18 months of age.

Living with Pfeiffer syndrome Type 1 Pfeiffer syndrome is treatable with early surgery, physical therapy, and long-term surgery planning.

Disease definition. Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

Sunken cheeks occur when you don’t have a lot of tissue (flesh) between your zygoma (the bony arch of your cheek under your eye) and your mandible (your lower jawbone). Both women and men can have them. Sunken cheeks are often attributed to the aging process, which causes you to lose facial fat.

Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss.

Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. As the baby’s brain grows, the skull can become more misshapen. The spaces between a typical baby’s skull bones are filled with flexible material and called sutures.

Craniosynostosis is often noticeable at birth, but can also be diagnosed in older children. This condition sometimes runs in families, but most often it occurs randomly.