What is the life expectancy of a child with Pfeiffer syndrome?

People with Type I Pfeiffer syndrome usually have a normal lifespan and typical intelligence. Those with Types II and III Pfeiffer syndrome have more severe defects that can impair brain development and function.

How early can you detect Pfeiffer syndrome?

Your pediatrician can usually detect Pfeiffer syndrome very early because of symptoms in the skull, thumbs, and big toes. Because skull deformities appear in several similar syndromes, your pediatrician will use other testing methods to make an accurate diagnosis.

Can Pfeiffer syndrome be prevented?

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.

Does Pfeiffer syndrome affect intelligence?

Intelligence is usually normal. Pfeiffer syndrome type II is characterized by a more severe form of craniosynostosis (Cloverleaf skull), with more severe hand and foot anomalies and additional malformations of the limbs.

Can you detect Pfeiffer syndrome?

Diagnosis. A doctor can often tell whether your child has Pfeiffer syndrome from a physical exam as they check the skull, thumbs, and big toes. To make sure it’s Pfeiffer and not something else, your doctor may also order: X-rays or imaging, like a CT scan, to check the skull.

What kind of genetic disorder is Pfeiffer syndrome?

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.

Is there a life expectancy for Pfeiffer syndrome?

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. Tired of Psoriasis? Genetics Home Reference. “Pfeiffer syndrome.” Pub Apr 16, 2016 National Organization for Rare Disorders. “Pfeiffer syndrome.” Pub 2015.

What kind of hearing loss does Pfeiffer syndrome cause?

General Discussion 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.

What does type 1 Pfeiffer syndrome look like?

Type I is considered mild compared to types II and III. In Pfeiffer syndrome type I, infants have craniosynostosis that causes the head to appear vertically elongated.

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.

How often do people with Pfeiffer syndrome die?

Most individuals with Pfeiffer syndrome type 1 have a normal intelligence and life span, while types 2 and 3 typically result in neurodevelopmental disorders and early death. Pfeiffer syndrome affects about 1 in 100,000 births.

General Discussion 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.

Type I is considered mild compared to types II and III. In Pfeiffer syndrome type I, infants have craniosynostosis that causes the head to appear vertically elongated.