You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
People with Type I Pfeiffer syndrome usually have a normal lifespan and typical intelligence.
If the diagnosis is uncertain, genetic testing can be done to identify Decreased size of maxilla Mutations in the FGFR1 gene cause a small percentage of cases of type 1 Pfeiffer syndrome.Mutations in this gene have not been associated with type 2 or 3.
Pfeiffer syndrome is caused by a genetic mutation in the fibroblast growth factor receptor (FGFR) genes. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.
because the parents are unaffected.There are a number of types of genetic inheritance, for example:People with Type I Pfeiffer syndrome typically have normal intelligence. Deafness may be genetic or due to damage from noise.
Elevated palate Low nasal root
MedicineNet does not provide medical advice, diagnosis or treatment. Maxillary retrusion Fused finger bones of the hand Many develop patient-centered information and are the driving force behind research for better treatments and possible cures.
Nasal bridge broad
Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.The definition of a genetic disease is a disorder or condition caused by
Types II and III of Pfeiffer syndrome are more severe. ACS5; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5; ACS5; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5; Acrocephalosyndactyly type 5; Noack syndrome; ACSV; Craniofacial-skeletal-dermatologic syndrome; Craniofacial-skeletal-dermatologic dysplasia
Prominent lower jaw
Sensorineural hearing loss can be caused by conditions affecting the:
Wide bridge of nose The treatment for birth defects depends upon the condition of the effected child.Hearing loss (deafness) may be present at birth or it may manifest later in life. If you have questions about which treatment is right for you, talk to your healthcare professional.If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. A health care provider may consider these conditions in the table below when making a diagnosis. What are the signs and symptoms of Pfeiffer syndrome?Pregnancy: Multiple Births, Twins, Triplets, and MoreWhat other disorders are related to Pfeiffer syndrome?What is the life expectancy of an individual with Pfeiffer syndrome? Pfeiffer syndrome is either caused by FGFR-1 or FGFR-2. Cross-eyed The abnormal gene can be inherited from either parent or be a result 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. Tower skull shape
available that address each individual's specific symptoms. Conditions with similar signs and symptoms from Orphanet Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic.
Flat, nasal bridge You may want to review these resources with a medical professional.