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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull ( craniosynostosis ), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations in the fibroblast ...
Cardiocranial syndrome, Pfeiffer type. Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. [1] [2] [3] [4]
Their only child, Amiir, was born with Pfeiffer syndrome type 2 on October 16, 1996. He was unable to breathe without a ventilator and died six days after his birth. A week later, the couple were interviewed on The Oprah Winfrey Show, where they pretended their son was still alive. According to Garcia, they were unable to process his death. "We ...
Prince's ex-wife Mayte Garcia opened up in a new interview with People to talk about her time with the late singer.
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluation).
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease , type 1 diabetes , or both. [5]