Subtotal $0.00
Essential
It is feasible that the major title of the record Pfeiffer Syndrome is not the name you anticipated. Happy examine the basic synonyms noting to locate the alternative name(s) and also condition class(s) covered by this record.
Words
- acrocephalosyndactyly, kind V
- ACSV
- Noack disorder
- craniofacial-skeletal-dermatologic disorder
Condition Subdivisions
- Pfeiffer disorder kind I
- Pfeiffer disorder kind II
- Pfeiffer disorder kind III
General Discussion
Pfeiffer disorder is an unusual congenital disease identified by early blend of particular head bones (craniosynostosis), as well as uncommonly extensive as well as medially departed thumbs as well as terrific toes. The majority of influenced people likewise have an unusual midface, with extending eyes as well as conductive hearing loss. 3 kinds of Pfeiffer disorder are identified, which kinds II and also III are the even more major.
Pfeiffer disorder is an autosomal leading problem connected with anomalies in the fibroblast development element receptor-2 (FGFR2) genetics and also the fibroblast development aspect receptor-1 (FGFR1) genetics.
Pfeiffer disorder is currently understood to be a participant of a team of problems dued to anomalies in the FGFR genetics consisting of Apert disorder, Crouzon disorder, Beare-Stevenson disorder, FGFR2-related separated coronal synostosis, Jackson-Weiss disorder, Crouzon disorder with acanthosis nigricans and also Muenke disorder. (For even more details on these problems, happy take a look at the Related Disorders area here).
