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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Supernumerary nipples–uropathies–Becker's nevus syndrome; Supernumerary phantom limb; Survivor syndrome; Susac's syndrome; Sweet's syndrome; Swyer–James syndrome; Syndrome of inappropriate antidiuretic hormone secretion; Syndrome of subjective doubles; Syndrome Without A Name; HHH syndrome; Systemic inflammatory response syndrome; Sézary ...
Around 65% of people have some kind of health problem as a result of congenital genetic mutations. [7] Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "rare" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in ...
From incredible recoveries to puzzling diagnoses, medical cases reveal the sheer complexity and resilience of the human body. They offer a glimpse into the challenges and triumphs of healthcare .
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 ...
Ribose-5-phosphate isomerase deficiency (RPID) is a rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway.With only four known cases – all diagnosed between 1984 and 2019 – RPI deficiency is the second rarest disease, with Fields condition being the rarest, affecting two known individuals, Catherine and Kirstie Fields.
A case is known of an otherwise phenotypically normal man with a ring 22 and azoospermia, [5] and one symptomatic case has been reported of a girl with a malformed clitoris. [2] Though most cases are accompanied by significant disability, reports have been made of intergenerational transmission with some mild or asymptomatic cases. A family has ...
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. [ 1 ]