CHARGE syndrome is a genetic disorder with multiple symptoms or clinical pictures. Most notable among these are a colomb of the eye, heart defects, atresia of the choans, decreased length growth and developmental delay, genital abnormality, and abnormality of the ear. Surgical correction of the malformations is necessary. Many sufferers can lead relatively normal lives … CHARGE Syndrome: Causes, Symptoms & Treatment
CHILD syndrome belongs to the group of hereditary skin diseases called genodermatoses. It is a very rare disorder that affects only one side of the body, usually the right. In addition to genodermatosis, equilateral malformations of limbs and abnormalities of internal organs occur. What is CHILD syndrome? The acronym CHILD stands for “Congenital Hemidysplasia with … CHILD Syndrome: Causes, Symptoms & Treatment
CHIME syndrome is a disease that is comparatively rare. In addition, affected patients are usually mentally retarded. What is CHIME syndrome? CHIME syndrome is sometimes referred to synonymously as neuroectodermal syndrome or Zunich-Kaye syndrome. The prevalence of the condition is estimated to be approximately 1:1,000,000. In general, CHIME syndrome is inherited in an autosomal recessive … CHIME Syndrome: Causes, Symptoms & Treatment
Floating harbor syndrome is a condition that affects patients from birth. Floating harbor syndrome appears with relatively low average frequency in the population. Typical for the disease are short stature with anomalies in the face. In addition, the speech ability of the person suffering from floating harbor syndrome develops delayed. What is floating harbor syndrome? … Floating Harbor Syndrome: Causes, Symptoms & Treatment
KGB syndrome , also known as Hermann-Pallister syndrome, is a very rare inherited disorder that affects all body systems. Characteristics of the genetic disorder include unusual facial features, skeletal abnormalities, and delayed development. What is KGB syndrome? The name KGB syndrome comes from the initial letters of the family names of the first patients with … KGB Syndrome: Causes, Symptoms & Treatment
Kabuki syndrome, also known as Kabuki makeup syndrome or Niikawa-Kuroki syndrome, is a very rare inherited disorder. The cause is as yet unknown; therapy is concerned with alleviating symptoms. To date, there is no abundant information about the symptoms, nor about the course of the disease; the syndrome cannot be prevented. What is Kabuki syndrome? … Kabuki Syndrome: Causes, Symptoms & Treatment
Cardio-facio-cutaneous syndrome is a very rare genetic disorder. It is characterized by the presence of multiple physical and mental impairments. The disease can only be treated symptomatically. What is cardio-facio-cutaneous syndrome? Cardio-facio-cutaneous syndrome is characterized by multiple physical malformations and mental developmental delays. Not much is known about this disease. Sporadic cases occur from time … Cardio-facio-cutaneous Syndrome: Causes, Symptoms & Treatment
Anal atresia is a malformation of the human rectum. In this case, the opening of the anus is missing or is not created correctly. What is anal atresia? Anal atresia is the name given to a malformation of the human rectum. In this case, the opening of the anus is missing or is not created … Anal Atresia: Causes, Symptoms & Treatment
Chromosomal aberrations are characterized by numerical or structural changes in chromosomes. They are genetic defects that can be visualized by chromosome testing and affect multiple genes. Because of the significant genetic changes, very many chromosomal aberrations are incompatible with life. What are chromosomal aberrations? Chromosomal aberrations are genetic changes that affect a wide range of … Chromosomal Aberrations: Causes, Symptoms & Treatment
Aorto-pulmonary window is a congenital septal defect. The ascending aorta and truncus pulmonalis are connected within the defect, causing pulmonary hypertension, right-sided cardiac strain, and tissue undersupply. Correction of the aorto-pulmonary septal defect is accomplished by surgical separation of the connected vessels. What is an aorto-pulmonary window? The ascending aorta corresponds to the initial portion … Aorto-pulmonary Window: Causes, Symptoms & Treatment
Chromosomal mutations are changes to one or more chromosomes in an individual. These changes can be passed on to descendants. A consequence of such mutations may be disease, malformation, or disability. What are chromosomal mutations? Various changes are possible on a chromosome. This is because chromosomes can break apart, resulting in mutations. There are seven … Chromosomal Mutation: Causes, Symptoms & Treatment
Pena-Shokeir syndrome is a serious genetic disorder with multiple malformations of internal and external organs. If the infants are born alive, death occurs after a few days or weeks at the latest. The main cause of death is severe pulmonary hypoplasia. What is Pena-Shokeir syndrome? Pena-Shokeir syndrome is a very rare serious disorder characterized by … Pena-Shokeir Syndrome: Causes, Symptoms & Treatment
