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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 ...
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 to ossicular fixation (ossicles), intratympanic bony masses (tympanic membrane), ossicular anomalies and closure of the oval window. Patients with a sensorineural hearing ...
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.
Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part ...
Apert syndrome. Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial ...
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome.
Restless legs syndrome is more common as people get older Restless legs syndrome is more common in people 45 or older, with patients who are diagnosed before 45 considered to have an early-onset ...