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Pfeiffer Syndrome - Frequently Asked Questions

Medically Reviewed by The Medindia Medical Review Team on Jun 09, 2017


Frequently Asked Questions

1. Which doctor should I consult for Pfeiffer syndrome?

Based on the clinical characteristics of the newborn baby, the patient will be observed by a pediatrician, neurosurgeon, neonatologist, and an orthopedic surgeon.

2. Is Pfeiffer syndrome hereditary?

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.

3. What are the other names for Pfeiffer syndrome?

Pfeiffer syndrome is also known as acrocephalosyndactyly type 5, ACS V, ACS5, Noack syndrome, and craniofacial-skeletal-dermatologic dysplasia.


4. What are the FGFR-related craniosynostosis syndromes?


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.

5. Can you prevent Pfeiffer syndrome?

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.

6. How common is Pfeiffer syndrome?

Pfeiffer syndrome is a rare syndrome because only 1 person in every 100,000 individuals is affected.

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