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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 ...
Visual processing abnormalities in schizophrenia. Visual processing abnormalities in schizophrenia are commonly found, and contribute to poor social function. [1] There is evidence that schizophrenia affects perception of contrast and motion, control of eye movements, detection of visual contours, and recognition of faces or facial expressions.
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
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
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 ...
Auditory processing disorder ( APD ), rarely known as King-Kopetzky syndrome or auditory disability with normal hearing ( ADN ), is a neurodevelopmental disorder affecting the way the brain processes sounds. [2] Individuals with APD usually have normal structure and function of the ear, but cannot process the information they hear in the same ...
Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
The estimate suggests that the condition is slightly less common than Rett syndrome, a genetic disorder that causes babies to rapidly lose coordination, speech and mobility and affects about 1 in ...