Genetic Disorders

Renal Agenesis – Types, Causes and Treatment

Definition Renal agenesis is a congenital condition characterized by the absence of one or both kidneys at birth. The kidneys play a crucial role in filtering waste and excess fluids from the blood to form urine. The affected individual is born with either one kidney (unilateral renal agenesis) or no …

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Vici Syndrome – Causes, Treatment and Prevention

Overview Vici syndrome, also known as immunodeficiency with cleft lip/palate, hypopigmentation, and absent corpus callosum, is an extremely rare genetic disorder characterized by a combination of distinctive features affecting various systems of the body. Individuals typically exhibit immune system deficiencies, resulting in an increased susceptibility to infections. This immunodeficiency is …

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Shwachman-Diamond Syndrome – Causes, and Treatment

Overview Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that primarily affects the pancreas, bone marrow, and skeletal system. It is an autosomal recessive condition, meaning that individuals with SDS inherit a mutated gene from both parents. The syndrome is caused by mutations in the SBDS gene, which plays a …

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Alport Syndrome – Types, Causes and Treatment

What is Alport Syndrome? Alport syndrome is a genetic illness that affects the functioning of the kidneys, eyes, and ears. It affects the collagen type IV in the body, which prevents these organs from functioning naturally. Also, it damages the glomeruli in the kidneys, which prevents the filtering of wastes from …

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Adrenoleukodystrophy – Overview and Diagnosis

Overview Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired …

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Stickler Syndrome – Definition, Types, Causes and Treatment

Definition Stickler syndrome and related disorders are a group of inherited conditions characterized by ocular abnormalities, hearing loss, and skeletal or joint problems. Most individuals with this syndrome have a distinct facial appearance with a flattened midface, sometimes with the Pierre Robin sequence. The majority of cases are caused by …

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