Kearns Sayre syndrome Kearns-Sayre syndrome (KSS) is a very rare multisystem mitochondrial disease defined by 3 primary findings of onset before age 20 years, atypical

POLG POLG also called POLG-related disorders is a group of mitochondrial genetic diseases caused by mutations in the polymerase gamma (pol γ) or PolG gene that have

Kennedy’s disease Kennedy's syndrome also known as Kennedy's disease, X-linked spinal and bulbar muscular atrophy, X-linked spinobulbar muscular atrophy or Spinal and Bulbar Muscular Atrophy (SBMA),

Hand tremors Tremor is a type of rhythmic shaking movement that you can't control that is commonly caused by a neurological condition or a nervous

Potter’s syndrome Potter's syndrome also known as Potter syndrome, Potter sequence or oligohydramnios sequence, is a rare congenital disorder caused by kidney problems and too

PPROM Preterm premature rupture of membranes or PPROM is also known as preterm PROM, is a condition which occurs in pregnancy when the amniotic sac

Joubert syndrome Joubert syndrome, also called familial aplasia of the vermis, molar tooth midbrain-hindbrain malformation, agenesis of cerebellar vermis or cerebello-oculo-renal syndrome, is a rare autosomal

Torsades de Pointes Torsades de Pointes (TdP), which mean "twisting of the point" in French, is a type of polymorphic ventricular tachycardia (fast heart rate originating

Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS), also called Rieger syndrome, Rieger's anomaly, Axenfeld and Rieger anomaly or iridogoniodysgenesis with somatic anomalies, is a rare genetic disorder that primarily

Osteopetrosis Osteopetrosis also called "marble bone disease", refers to a group of rare, inherited skeletal disorders characterized by increased bone density, abnormal bone growth and