Witryna9 kwi 2024 · Allan-Herndon Syndrome; X-Linked Mental Retardation with Hypotonia. History First described by the American geneticists William Allan and Nash Herndon, and their social worker, Florence Dudley in 1944. Witryna31 sty 2024 · Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure to thrive in the setting of thyroid irregularities. The patient had missense mutations in …
Allan-Herndon-Dudley syndrome - About the Disease
WitrynaMutations in the gene encoding MCT8 (SLC16A2 on chromosome Xq13.2) cause MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, a debilitating disorder with an estimated prevalence of 1 in 70 000 male individuals. elizabethtown pa library passport
Het Allan-Herndon-Dudley syndroom - Kinderneurologie
WitrynaTonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have … WitrynaAllan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, … Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement. Allan–Herndon–Dudley syndrome, which is named eponymously for William Allan, Florence C. Dudley, … Zobacz więcej It is estimated that 80–99% of people with Allan–Herndon–Dudley syndrome will have biparietal narrowing (narrowing of skull), ataxia, abnormalities of the neck, and both absent speech development and aphasia. Weak … Zobacz więcej This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X … Zobacz więcej In May 2013, the US FDA granted Orphan drug status to Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. … Zobacz więcej Mutations in the SLC16A2 gene cause Allan–Herndon–Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a … Zobacz więcej • GeneReviews/NCBI/NIH/UW entry on MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency • Allan–Herndon–Dudley syndrome at National Library of Medicine Zobacz więcej elizabethtown pa historical society