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Crucial
It is feasible that the primary title of the record Pfeiffer Syndrome is not the name you anticipated. Please check the words providing to discover the alternative name(s) and disorder neighborhood(s) covered by this record.
Words
- acrocephalosyndactyly, kind V
- ACSV
- Noack disorder
- craniofacial-skeletal-dermatologic syndrome
Problem Class
- Pfeiffer syndrome kind I
- Pfeiffer syndrome kind II
- Pfeiffer syndrome type III
General Conversation
Pfeiffer syndrome is a rare congenital disease identified by untimely combination of certain head bones (craniosynostosis), and also unusually broad and medially drifted thumbs and also fantastic toes. Most impacted individuals additionally have an unusual midface, with sticking out eyes and also conductive hearing loss. Three types of Pfeiffer syndrome are recognized, which kinds II as well as III are the even more severe.
Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the fibroblast growth factor receptor-2 (FGFR2) genetics as well as the fibroblast growth aspect receptor-1 (FGFR1) genetics.
Pfeiffer syndrome is currently known to be a participant of a group of conditions caused by anomalies in the FGFR genes including Apert disorder, Crouzon disorder, Beare-Stevenson syndrome, FGFR2-related separated coronal synostosis, Jackson-Weiss syndrome, Crouzon disorder with acanthosis nigricans and Muenke syndrome. (To find out more on these problems, please see the Associated Problems section here.).
