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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.
1:30,000 (males), 1:125,000 (females) Kallmann syndrome ( KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional ...
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]
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
Bleeding in the stomach and intestines, edema, dilated blood vessels. Gastric antral vascular ectasia ( GAVE) is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia. [1] [2] The condition is associated with dilated small blood vessels in the gastric antrum, which is a distal part of the stomach. [1]
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 ...
Sheehan's syndrome, also known as postpartum pituitary gland necrosis, occurs when the pituitary gland is damaged due to significant blood loss and hypovolemic shock (ischemic necrosis) usually during or after childbirth leading to decreased functioning of the pituitary gland ( hypopituitarism ). [1] The pituitary gland is an endocrine organ ...
Brain ischemia is a condition in which there is insufficient bloodflow to the brain to meet metabolic demand. [1] This leads to poor oxygen supply or cerebral hypoxia and thus leads to the death of brain tissue or cerebral infarction / ischemic stroke. [2] It is a sub-type of stroke along with subarachnoid hemorrhage and intracerebral hemorrhage.