CALI TR
TR activities for Cali
Pfeiffer Syndrome
National Organization of Rare Disorders gratefully acknowledges Nathaniel H. Robin, MD, Professor of Genetics and Pediatrics, University of Alabama at Birmingham, for assistance in the preparation of this report.
· acrocephalosyndactyly, type V
· ACSV
· craniofacial-skeletal-dermatologic syndrome
· Noack syndrome
Subdivisions of Pfeiffer Syndrome
· Pfeiffer syndrome type I
· Pfeiffer syndrome type II
· Pfeiffer syndrome type III
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss. Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious.
Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the genes fibroblast growth factor receptor-2 (FGFR2) and fibroblast growth factor receptor-1 (FGFR1).
Pfeiffer syndrome is now known to be a member of a group of conditions caused by mutations in the FGFR genes including Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans and Muenke syndrome. (For more information on these conditions, please see the Related Disorders section below.)
Infants with Pfeiffer syndrome type I have craniosynostosis that causes the head to appear short and tall (turribrachycephaly). Additional features may include a high, full forehead; underdeveloped midfacial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), with a prominent lower jaw; and dental abnormalities. Intelligence is usually normal.
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Students: Above you will see the detailed description of Pfeiffer Syndrome. You also viewed the video about Calia who has Pfeiffer Syndrome. Your assignment is answer the questions that follow.
1. What therapeutic recreation activity would you plan for Calia. Take in consideration the following about her profile as you plan the activity. Remember our activity targets are the TR wellness centers, enhancement of physical, cognitive, emotional, social and leisure development so children/individuals may participate fully and independently in chosen life pursuits.
Age: Toddler 6-18 months old
Disability: Some physical challenges, ambulates with gait trainer walker. Will walk independently at some point.
Health Concerns: Tracheotomy
· Describe the Activity:
· How long would the acivity last:
2. What have learned from this media review (Cali's Story?)