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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.
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. Signs and symptoms. Features of this condition include: Abnormal heart morphology
View/Edit Mouse. Fibroblast growth factor receptor 1 ( FGFR1 ), also known as basic fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD 331, is a receptor tyrosine kinase whose ligands are specific members of the fibroblast growth factor family. FGFR1 has been shown to be associated with Pfeiffer ...
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.
View/Edit Mouse. Fibroblast growth factor receptor 2 ( FGFR2) also known as CD332 ( cluster of differentiation 332) is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10. [5] [6] FGFR2 is a receptor for fibroblast growth factor . The protein encoded by this gene is a member of the fibroblast growth factor receptor ...
Patients with Crouzon syndrome sometimes exhibit malformations of the external ear and/or the middle ear, such as malalignment of the pinna (Peterson-Falzone et al., 2001). Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation ...
Jackson–Weiss syndrome ( JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. [2]
Infectious mononucleosis ( IM, mono ), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV). [2] [3] Most people are infected by the virus as children, when the disease produces few or no symptoms. [2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck ...