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Hutchinson-Gilford progeroid syndrome (HGPS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at an early age. [8] Its occurrence is usually the result of a sporadic germline mutation ; although HGPS is genetically dominant, people rarely live long enough to have children ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene.
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan ...
Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1][2][3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4][5] although cases may be recognized dating back as early as 1908. [6][7][8] The symptoms of the disease vary greatly from ...
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: M acrosomia (excessive birth weight), O besity, M acrocephaly (excessive head size ...
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