Rare Genetic Diseases: Kartenger SyndromeKartagener syndrome is a type of primary ciliary dyskinesia. The disease is characterized by situs inversus totalis (mirror-image reversal…Mar 10, 2021Mar 10, 2021
Rare Genetic Diseases: Zimmermann-Laband SyndromeOnly 44 patients were diagnosed with Zimmermann-Laband syndrome to date. The disorder is not life-threatening and is characterized by…Mar 4, 2021Mar 4, 2021
Rare Genetic Diseases: RPI DeficiencyRibose-5-phosphate isomerase deficiency is considered the rarest disease in the world, with only three diagnosed cases. The disease was…Feb 24, 2021Feb 24, 2021
Rare Genetic Disorders: Patau SyndromePatau syndrome, also known as Trisomy 13, is a chromosomal condition that occurs due to an extra chromosome. Patients with Patau syndrome…Feb 10, 2021Feb 10, 2021
Rare Genetic Diseases: Camurati-Engelmann DiseaseCamurati-Engelmann disease is a rare genetic disorder occurring in only 300 individuals worldwide. It is characterized as a skeletal…Feb 5, 2021Feb 5, 2021
Rare Genetic Diseases: Hutchinson-Gilford SyndromeHutchinson-Gilford syndrome, also known as progeria, affects 1in 20,000,000 individuals. In September 2020 there were 179 cases in the…Jan 26, 2021Jan 26, 2021
Rare Genetic Disease: Edward’s SyndromeThe trisomy on the 18th chromosome causes a genetic disorder called the Edward’s syndrome, which affects approximately one in 5,000 live…Nov 25, 2020Nov 25, 2020
Rare Genetic Diseases: Mucopolysaccharidosis Type VIMucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome is a progressive condition that causes many tissues and organs to…Nov 18, 2020Nov 18, 2020
Rare Genetic Diseases: Pfeiffer SyndromePfeiffer syndrome is characterized by premature fusion of certain skull bones (craniosynostosis). This prevents the normal growth of the…Nov 11, 2020Nov 11, 2020
Rare Genetic Diseases: Aicardi SyndromeAicardi syndrome occurs almost exclusively in females. Around 4,000 cases of individuals infected with this disease have been recorded…Nov 4, 2020Nov 4, 2020
