Genetic Disease Types
There are a number of types of genetic inheritance, for example:
- Single gene inheritance (for example, disorders that include cystic
fibrosis, sickle cell anemia, and Marfan syndrome)
- Multifactor inheritance (for example, diseases like heart disease, high
blood pressure, arthritis, cancer, and diabetes)
Pfeiffer syndrome facts
- Pfeiffer syndrome is a genetic disorder
that results in abnormalities of the skull and facial bones as well as changes
in the fingers and toes.
- Pfeiffer syndrome is subdivided into
- 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.
- There is no specific treatment for
Pfeiffer syndrome. Treatment is directed at improving the individual's symptoms.
- Pfeiffer syndrome is associated with
mutations (changes) in the FGFR genes.
- Pfeiffer syndrome affects about 1 out
of every 100,000 people.
- Pfeiffer syndrome can be inherited or
can occur due to a new mutation, or change, in the involved gene. In cases of
severe Pfeiffer syndrome, a new mutation is typically the cause.
What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare genetic disorder characterized by premature
fusion of certain skull bones (craniosynostosis) and other birth defects in the
hands and feet. The abnormality of the skull bones causes changes in the shape
of the face and head. There are three subtypes of the syndrome, with Types II and II
being the most severe.
Pfeiffer syndrome has also been referred to as acrocephalosyndactyly type V,
ACSV, craniofacial-skeletal-dermatologic syndrome, and Noack syndrome.
What causes Pfeiffer syndrome?
Pfeiffer syndrome is inherited as an autosomal dominant genetic disorder,
meaning that only a single copy of an abnormal gene is necessary to cause the
condition. The abnormal gene can be inherited from either parent or be a result
of a new mutation (change in a gene) in the affected individual. Almost all
cases of Pfeiffer syndrome type II and type III originate from new mutations
because the parents are unaffected.
- Pfeiffer syndrome type I is associated with mutations in genes known as FGFR1
- Pfeiffer syndrome type II and type III are associated with mutations
- Older age in the father is a known risk factor for acquiring Pfeiffer
syndrome in the offspring due to new mutations.
Medically Reviewed by a Doctor on 4/26/2016