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Diseases » Down Syndrome » Glossary

Glossary for Down Syndrome

ALL-Down syndrome: The presence of acute lymphoblastic leukemia in Down syndrome patients. These patients tend to have a poorer prognosis for the leukemia than patients without Down syndrome.
Abdominal Pain: A condition which is characterized by the sensation of pain that is located in the abdomen
Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
Autosomal chromosome conditions: Any conditions that are related to any non-sex-determining chromosome
Bowel Obstruction: Blockage in the bowel of the digestive tract.
Cataracts: Cloudy areas on the eye's cornea interfering with vision.
Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
Cognitive impairment: General loss of mental or cognitive ability
Conductive hearing loss: Hearing loss due to a defect in the external auditory canal or middle ear.
Congenital deafness: Deafness at birth.
Congenital heart defects: Heart defects that a baby is born with.
Constipation: Difficult or dry bowel movements
Deformity symptoms: Various types of deformity
Dementia: Various mental impairment conditions.
Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
Duodenal atresia: A rare birth defect where a portion of the small intestine is absent or completely closed off and the digestive products cannot pass through. It is usually associated with other birth defects.
Eye symptoms: Symptoms affecting the eye
Facial feature symptoms: Different facial features as symptoms
Hirschsprung Disease: A condition which is characterized by the congenital dilation and hypertropohy of the colon
Hirschsprung's disease: A rare condition where abnormalities in the bowel muscles prevent it from contracting normally and pushing the fecal matter through which results in obstruction and dilation of the bowel.
Hypothyroidism: Too little thyroid hormone production.
Immune symptoms: Symptoms affecting the immune system
Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
Jejunal Atresia: A rare birth defect where developmental abnormalities result in the small intestine being completely absent or blocked.
Leukemia: Cancer of the blood cells, usually white blood cells.
Macroglossia: Abnormally large tongue.
Memory loss: The loss of ones ability to recall from their memory.
Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Myelodysplastic syndromes: A group of syndromes characterized by a disruption in the production of blood cells. Often the bone marrow increases production of various blood cells but because many of them are defective, they are destroyed before the reach the blood stream.
Neck symptoms: Symptoms affecting the neck
Nose shape symptoms: Unusual shape of the nose
Nystagmus: Involuntary jerky eye movements
Pneumonia: Infection of the lung by bacteria, viruses or fungus.
Premature aging: Where the aging processes of the body occur earlier than normal.
Pulmonary hypertension: Pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug). Sometimes it occurs for no apparent reason and is called primary pulmonary hypertension.
Reduced sperm count: A reduction in the normal sperm count of a males semen
Respiratory infections: Any infection that occurs to the respiratory system
Seizures - intellectual deficit due to hydroxylysinuria: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
Tooth eruption delayed: The delayed eruption of a tooth from the gum
Tooth loss: The loss of a tooth
Translocation Chromosome Disorders: Any disorder that is caused by the translocation of chromosomes
Trisomy conditions: Any condition that is characterised by the occurrence of 3 of the same chromosome in an individuals genetic sequence
Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
Vision Disorders: Any condition involving problems with vision. The three main types of vision disorders are farsightedness, nearsightedness and astigmatism.