Genetic Disorders

Carpenter Syndrome – Causes, Symptoms, and Treatment.

Description Carpenter syndrome is a condition characterized by the premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain, …

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Apert syndrome – Symptoms, Causes, and Diagnosis.

Description Apert syndrome, also known as “acrocephalosyndactyly”. It is a genetic disorder in which certain skull bones fuse together prematurely, which is known as craniosynostosis. This early fusion of the skull prevents it from developing normally and causes the child to have an unusual head and face shape. Children with …

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Kabuki Syndrome – Description, Causes, and Treatment.

Description Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can …

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Velocardiofacial syndrome- Definition, Treatment and Prevention

Definition Velocardiofacial syndrome, or VCFS, is a complex syndrome that has been associated with more than 30 different characteristics, including defects of the palate, heart defects, learning disabilities and distinct facial features. The severity of VCFS and the characteristics that appear vary widely among individuals. It’s inherited in an autosomal …

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Galactosemia- Definition, Causes, and Prevention  

Definition Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridyl transferase (GALT) which is …

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AAA Syndrome: Causes, Symptoms and complications.

Introduction AAA syndrome is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, alacrima and achalasia. Primary adrenal insufficiency or also known as Addison disease, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison …

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