Congenital Anomaly – definition

Congenital Anomaly Definition A physical abnormality present at birth. Congenital anomalies, also called BIRTH DEFECTS, can affect nearly any structure in the body and may be hereditary or random. GENETIC DISORDERS and exposure to teratogens (substances, such as drugs, that alter the development of the embryo or fetus) account for the majority of congenital anomalies. The symptom […]

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Translocation – chromosomal disorder – definition

Translocation Definition A chromosomal disorder in which a fragment of a CHROMOSOME breaks from its original chromosome and attaches itself to a different chromosome. The fragment may exchange with another fragment, may add itself to another chromosome, or may become lost. Some translocations are random and others occur in predictable patterns. Translocations can be reciprocal, in which chromosome […]

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Cystic Fibrosis – symptoms and treatment

Cystic Fibrosis Definition An inherited genetic disorder resulting from multiple mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) GENE on CHROMOSOME 7, inherited as autosomal recessive mutations. Researchers believe as many as 10 million people may be cystic fibrosis carriers and unaware of it. Though researchers know of approximately 600 CFTR mutations, one MUTATION, called the delta F508 mutation, accounts […]

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Down Syndrome children – symptoms and treatment

Down Syndrome Definition Down Syndrome is an AUTOSOMAL TRISOMY disorder that results from a REPLICATION ERROR during cell division in which a GAMETE(sex cell) ends up with two copies of CHROMOSOME 21 instead of the normal single copy (as haploid cells, gametes contain one half the complement of chromosomes). At CONCEPTION the ZYGOTE thus ends up with three instead of the normal […]

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Hemophilia Disease – Symptoms and Treatment

Definition of Hemophilia A group of inherited genetic disorders in which certain clotting factors are deficient or absent, resulting in clotting dysfunction. People who have hemophilia tend to bleed easily and longer than normal. Some forms of hemophilia carry substantial risk for life-threatening hemorrhage (bleeding). Types of Hemophilia Doctors classify hemophilia according to the deficient clotting factor, which may […]

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Edwards syndrome – diagnosis, deformities and anomalies

Edwards Syndrome Definition Edwards syndrome – an AUTOSOMAL TRISOMY disorder that results from a REPLICATION ERROR during cell division in which a GAMETE(sex cell) ends up with two copies of CHROMOSOME 18 instead of the normal single copy (as haploid cells, gametes contain one half the complement of chromosomes). At fertilization the ZYGOTE thus ends up with three instead of the normal two […]

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Thalassemia (alpha/beta) Disease – Symptoms and Treatment

Definition of Thalassemia alpha/beta Disease A genetic disorder of the blood in which the body fails to produce one or more of the proteins necessary for the synthesis of hemoglobin, the protein that enables erythrocytes (red blood cells) to carry oxygen. The consequence is anemia (inadequate oxygen to the cells throughout the body). There are two basic […]

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Familial Mediterranean Fever syndrome – diagnosis

Familial Mediterranean Fever Definition Familial Mediterranean Fever – an inherited genetic disorder that results in repeated episodes of arthritis (INFLAMMATION of the joints), PERITONITIS (inflammation of the membrane that lines the abdominal cavity), pleuritis (inflammation of the membrane that surrounds the LUNGS), and PERICARDITIS (inflammation of the membrane that contains the HEART). FEVER accompanies the outbreaks of inflammation, which […]

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Von Willebrand’s Disease – Symptoms and Treatment

Definition of Von Willebrand’s Disease A hereditary, genetic bleeding disorder resulting from a deficiency or molecular abnormality of clotting factor VIII. Unlike hemophilia A, which also results from clotting factor VIII deficiency, von Willebrand’s disease affects both men and women equally. Its inheritance pattern is autosomal dominant, meaning a child can acquire the condition when […]

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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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