What type of mutation is Pfeiffer syndrome?
Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the genes fibroblast growth factor receptor-2 (FGFR2) and fibroblast growth factor receptor-1 (FGFR1).
What causes Pfeiffer syndrome type 2?
Types 2 and 3 are almost always caused by a mutation in the FGFR2 gene, and are new (spontaneous) mutations, rather than inherited. Research also suggests that sperm from older men are more likely to mutate. This can cause Pfeiffer syndrome, especially types 2 and 3, to happen without warning.
What are the symptoms of Pfeiffer syndrome?
Symptoms of Pfeiffer Syndrome
- Misshapen head: wide, high forehead and short head from front to back.
- Unusually broad thumbs and big toes that are offset from the other fingers and toes.
- Wide-set, bulging eyes.
- Unusually small upper jaw.
- Small, beak-shaped nose.
- Crowded, crooked teeth.
- Hearing loss.
Can people with Pfeiffer syndrome live a normal life?
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.
What is antley Bixler syndrome?
General Discussion. Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. The disorder is typically associated with premature closure of joints (cranial sutures) between particular bones of the skull (craniosynostosis).
Is Apert syndrome a physical disability?
There is no disability listing for Apert syndrome among the Social Security Administration’s (SSA’s) impairment list. This does not however mean that the condition cannot medically qualify a child to receive benefits.
What does a child with Pfeiffer syndrome look like?
Many babies with Pfeiffer syndrome have a flat forehead and a skull that is tall and narrow. Children with types 1 and 3 tend to have a tall, tower-shaped head (turribrachycephaly). Babies with type 2 Pfeiffer syndrome may have a “cloverleaf” skull shape that bulges out to the sides (also called Kleeblattschadel).
Does Pfeiffer syndrome affect intelligence?
Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system.
What is craniofacial fibrous dysplasia?
What is craniofacial fibrous dysplasia? Craniofacial fibrous dysplasia is a bone disease of the face and skull that replaces normal bone with fibrous-type tissue. This tissue is not as hard as normal bone, and because it is soft and stringy, it makes the bone more fragile and prone to break.
What are the two types of fibrous dysplasia?
There are two forms of fibrous dysplasia: Monostotic, which affects one bone and is active while the child is growing but often becomes inactive after puberty Polyostotic, which affects multiple bones and may remain active throughout a person’s life
How is fibrous dysplasia of the skull treated?
At CHOP, experts in the Craniofacial Program take a team approach to treatment of fibrous dysplasia of the skull. Specialists from plastic surgery, neurosurgery and ophthalmology collaborate to provide your child with individualized care and the best possible outcomes.
What tests are used to diagnose facial fibrous dysplasia?
Clinical experts use a variety of diagnostic tests to diagnose facial fibrous dysplasia, including: X-rays, which produce images of bones. Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images (“slices”) of the body.