Essay And Medical Diseases

Aase syndrome is a rare disorder that involves  anemia  and certain joint and skeletal deformities. Causes Many cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases (45%) have been shown to be inherited. These are due to a change in 1 of 9 genes important for making protein correctly (the genes make ribosomal proteins) This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia. The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed. Symptoms Symptoms may include: Absent or small knuckles Cleft palate Decreased skin creases at finger joints Deformed ears Droopy eyelids Inability to fully extend the joints from birth ( contracture deformity ) Narrow shoulders Pale skin Triple-jointed thumb

NORD gratefully acknowledges Marc B. Taub, OD, Associate Professor, Chief of Vision Therapy and Rehabilitation Services, The Eye Center, Southern College of Optometry, Memphis, Tennessee, for assistance in the preparation of this report. Synonyms of Aarskog Syndrome Aarskog disease Aarskog-Scott syndrome AAS faciodigitogenital syndrome faciogenital dysplasia FGDY Scott Aarskog syndrome General Discussion Aarskog syndrome  is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability. Signs & Symptoms Aarskog syndrome primarily affects males who exhibit a characteristic set of facial, skeletal, and genital abnormalities. In some cases, female carriers may develop a mild form of the disorder. Symptoms may vary from case to case. Males with Aarskog syndrome often have a rounded f

ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome. NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for see

Kuru is a rare and fatal nervous system disease. Its highest prevalence occurred during the 1950s and 1960s among the Fore people in the highlands of New Guinea. The Fore people contracted the disease by performing cannibalism on corpses during funeral rituals. The name kuru means “to shiver” or “trembling in fear.” The symptoms of the disease include muscle twitching and loss of coordination. Other symptoms include difficulty walking, involuntary movements, behavioral and mood changes, dementia, and difficulty eating. The latter can cause malnutrition. Kuru has no known cure. It’s usually fatal within one year of contraction. The identification and study of kuru helped along scientific research in a number of ways. It was the first neurodegenerative disease resulting from an infectious agent. It led to the creation of a new class of diseases including Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia. Today the study of kuru still