Q: Which doctor should I consult for Pfeiffer syndrome?
A: Based on the clinical characteristics of the newborn baby, the patient will be observed by a pediatrician, neurosurgeon, neonatologist, and an orthopedic surgeon.
Q: Is Pfeiffer syndrome hereditary?
A: Yes, Pfeiffer syndrome is a rare autosomal dominant genetic condition. When one parent has a mutation for Pfeiffer syndrome, there is a 50% risk of the children acquiring the condition. However, Pfeiffer syndrome also occurs due to a chance (de novo) mutation in individuals.
Q: What are the other names for Pfeiffer syndrome?
A: Pfeiffer syndrome is also known as acrocephalosyndactyly type 5, ACS V, ACS5, Noack syndrome, and craniofacial-skeletal-dermatologic dysplasia.
Q: What are the FGFR-related craniosynostosis syndromes?
A: Some of the FGFR-related craniosynostosis conditions are Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Muenken syndrome, and Crouzon syndrome with acanthosis nigricans.
Q: Can you prevent Pfeiffer syndrome?
A: If there is a family history of Pfeiffer syndrome, it is recommended that parents undergo genetic counseling to assess the chances of having a child with Pfeiffer syndrome. Molecular genetic analyses will also be performed to aid the assessment.
Q: How common is Pfeiffer syndrome?
A: Pfeiffer syndrome is a rare syndrome because only 1 person in every 100,000 individuals is affected.
