Fragile X Syndrome – Symptoms, Diagnosis and Treatment

Fragile X Syndrome Definition An inherited genetic disorder that results in significant intellectual impairment. Fragile X syndrome arises from a monogenic (single-gene), increased repeat mutation affecting the FMR1 gene on the X chromosome and is the leading cause of inherited intellectual impairment in males. Fragile X syndrome more severely affects males because females have a second X chromosome that can […]

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Achondroplasia – Genetic Disorder – Dwarfism, Symptoms and Treatment

What is Achondroplasia and Dwarfism Achondroplasia is a genetic disorder in which the rate cartilage cells (chondrocytes) convert to bone cells is greatly slower than normal, resulting in skeletal abnormalities such as shortened limbs and diminished height. Achondroplasia is the most common cause of skeletal dysplasia, commonly called dwarfism. Though achondroplasia can occur as an autosomal dominant inherited […]

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G6PD Deficiency – Symptoms

G6PD Deficiency Definition G6PD Deficiency – an inherited genetic disorder in which the body lacks the enzyme glucose-6-phosphate dehydrogenase (G6PD). Erythrocytes (red blood cells) normally produce G6PD, which aids in metabolizing carbohydrates and also helps to protect erythrocytes from oxidation (damage resulting from metabolic waste). The absence of G6PD causes health problems when the body experiences unusual stress, […]

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Muscular Dystrophy – Types, Symptoms and Treatment

Definition of Muscular Dystrophy The collective term for a group of genetic disorders of the muscle resulting in progressive weakness. Most types of muscular dystrophy arise from a deficiency of the protein dystrophin, which is essential for skeletal (striated) muscle cell integrity and function. Without it the skeletal muscles deteriorate and movement becomes difficult or impossible. About 50,000 Americans have muscular […]

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Genetic Disorders in Humans – List and Definition

Genetic Disorders Definition Genetic Disorders is a collective classification for syndromes, diseases, and congenital anomalies that result from alterations of the genes and chromosomes.There are four general categories of genetic disorders, each relating to the way in which the alterations manifest. Chromosomal Disorders The normal human genome contains 23 paired chromosomes. Chromosomal disorders occur when there are disruptions in […]

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Osteogenesis Imperfecta – Types and Treatment

Definition of Osteogenesis Imperfecta Osteogenesis imperfecta is a genetic disorder, commonly called brittle bone disease, in which there are defects in the ways the body produces type 1 collagen, a fibrous protein that is the foundation of bone formation. As a result the bones lack proper structure and density and are highly susceptible to fracture. The […]

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Mitochondrial Disorders

Mitochondrial Disorders Definition Mitochondrial Disorders – inherited mutations in mitochondrial genes that result in functional disturbances in various body systems. Mitochondria are structures within the cell that generate the energy, in the form of adenosine triphosphate (ATP), the cell requires to function. A cell may contain dozens of mitochondria. Each mitochondrion contains the specific genetic material […]

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Albinism – Types, Symptoms, Causes and Treatment

Definition of Albinism and Pigmentation Albinism is a genetic disorder in which the melanocytes do not produce, or produce reduced amounts of, melanin, the chemical that deposits pigment in cells of the skin, hair, and structures of the eye. Without melanin, the skin, eyes, and hair have little or no pigment and consequently lack color. People who have albinism […]

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Mosaicism – Definition and Information

Mosaicism Definition A chromosomal disorder in which some cells are normal and some cells contain the chromosomal abnormalities of the disorder, in contrast to a complete distribution of the abnormal chromosomes throughout all cells. The distribution of abnormal cells in mosaicism is usually random and unpredictable. Mosaicism most commonly occurs in autosomal trisomy, in which there is […]

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Alopecia Areata – Definition, Causes and Symptoms

Definition of Alopecia Areata Alopecia Areata is a form of hair loss (alopecia) that results from an autoimmune disorder in which the immune system attacks clusters of hair follicles, halting hair growth. The clusters typically appear as circular patches of hairless skin, which are most noticeable when they occur on the scalp though can occur anywhere on the body. Hair growth […]

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