Pfeiffer syndrome
Common Name(s)
Pfeiffer syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.
The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.
The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.
http://www.worldcf.orgRecommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Pfeiffer syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pfeiffer syndrome" returned 15 free, full-text research articles on human participants.
First 3 results:
Journal: Arthritis Rheumatol. 2015 May;67(8):2282.
Journal:
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This ...
Journal: Taiwan J Obstet Gynecol. 2013 Dec;52(4):607-10.
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pfeiffer syndrome" returned 4 free, full-text review articles on human participants.
First 3 results:
Journal: Diagn Interv Imaging. 2012 Oct;93(10):785-9.
Journal:
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal ...
Journal: J. Korean Med. Sci.. 2006 Apr;21(2):374-8.
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/FGFR2
https://ghr.nlm.nih.gov/gene/FGFR1
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Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Advanced Cholangiocarcinoma
Condition Summary: FGFR Gene Amplification; FGFR1 Gene Amplification; FGFR2 Gene Amplification; FGFR2 Gene Mutation; FGFR3 Gene Mutation; Head and Neck Squamous Cell Carcinoma; Human Papillomavirus Infection; Recurrent Head and Neck Carcinoma; Recurrent Nasopharynx Carcinoma; Recurrent Oropharyngeal Squamous Cell Carcinoma
Condition Summary: Advanced Malignant Solid Neoplasm; FGFR1 Gene Mutation; FGFR2 Gene Mutation; FGFR3 Gene Mutation; FGFR4 Gene Mutation; Histiocytosis; Low Grade Glioma; Malignant Glioma; Recurrent Central Nervous System Neoplasm; Recurrent Childhood Ependymoma; Recurrent Childhood Malignant Germ Cell Tumor; Recurrent Childhood Medulloblastoma; Recurrent Childhood Non-Hodgkin Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Soft Tissue Sarcoma; Recurrent Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor; Recurrent Hepatoblastoma; Recurrent Langerhans Cell Histiocytosis; Recurrent Malignant Solid Neoplasm; Recurrent Neuroblastoma; Recurrent Osteosarcoma; Refractory Central Nervous System Neoplasm; Refractory Langerhans Cell Histiocytosis; Refractory Malignant Solid Neoplasm; Refractory Neuroblastoma; Refractory Non-Hodgkin Lymphoma; Rhabdoid Tumor; Stage III Childhood Non-Hodgkin Lymphoma; Stage III Soft Tissue Sarcoma; Stage IV Childhood Non-Hodgkin Lymphoma; Stage IV Soft Tissue Sarcoma; Wilms Tumor
Finding the right clinical trial for Pfeiffer syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.