Ichthyosis – Diagnosis and Treatment

Definition of Ichthyosis Ichthyosis is a genetic disorder of keratinization in which the cells the skin sheds as part of its continual renewal cluster on the skin’s surface in scalelike formations. The lesions itch and flake, and the involved surfaces of the skin become very dry, reddened, and inflamed. Ichthyosis may affect limited areas of the skin or most […]

Read More

Progeria Disease

Progeria Definition and Diagnostic Path A very rare genetic disorder, commonly called severe premature aging, that arises from a mutation in a single gene on chromosome 1 called lamin A (LMNA). The gene encodes a protein, also called lamin A, that is important for proper functioning of the membrane of the cell nucleus. In progeria this protein is abnormal, resulting in rapid […]

Read More

Autosomal Trisomy – Definiton

Autosomal Trisomy Definition Autosomal Trisomy is a chromosomal disorder in which there are three instead of the normal two copies of an autosome (nonsex chromosome). An autosomal trisomy may be complete (affect all cells) or mosaic (affect only some cells). The most commonly occurring complete autosomal trisomies that are survivable are those involving chromosomes 21, 18, […]

Read More

Syndrome horm. secr. SIADH

What is SIADH Syndrome and Definition The SIADH is characterized by enormous release of antidiuretic hormone from the posterior pituitary gland. It is the most common cause of euvolemic hyponatremia in hospitalized patients. The syndrome is associated with patients that have pneumonia, brain tumors, head trauma, strokes, meningitis, encephalitis, small-cell carcinoma of the lung, Hodgkin […]

Read More

Chromosomal Disorders – list, types, structure, symptoms and treatment

Chromosomal Disorders Definition Chromosomal Disorders – abnormalities affecting the chromosomes that result in syndromes (constellations of symptoms) having characteristic physical or functional anomalies. Most chromosomal disorders occur because of alterations in the number of chromosomes or the structure of chromosomes. Though an individual may inherit a chromosomal disorder, more commonly chromosomal disorders represent random occurrences. Typically […]

Read More

Tay-Sachs Disease – Symptoms and Treatment

Tay-Sachs Disease Definition An inherited genetic disorder that causes a progressive, fatal form of gangliosidosis (the accumulation of gangliosides within nerve cells). Tay-Sachs disease involves mutations of a pair of genes on chromosome 15 that encode for the enzyme hexosaminidase-A (hex-A). The mutation blocks production of hex-A. The body requires hex-A to metabolize GM2 ganglioside, a fatty acid […]

Read More

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 […]

Read More

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 […]

Read More

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 […]

Read More

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 […]

Read More