Atrial fibrillation (A-fib) is an irregular and often very rapid heart rhythm (arrhythmia) that can lead to blood clots in the heart. A-fib increases the risk of stroke, heart failure and other he...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

General DiscussionWildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); ab...

Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. In some cases, ACC may arise in other primary sites, such as the skin; the breast; the nec...

An interstitial lung disease occurs when there is cryptogenic fibrous alveolitis in the lungs (or ILD for short). They have an impact on the tissues that support the air sacs in the lungs, making it difficult for them to take in as much air as the...

Diphtheria is a serious bacterial infection that usually affects the mucous membranes of the throat and nose. It is caused by the bacterium Corynebacterium diphtheriae and is spread through respiratory droplets or direct contact with an infected p...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Cryptococcosis is caused by a fungus known as Cryptococcosis neoformans. The infection may be spread to humans through contact with pigeon droppings or unwashed raw fruit. Contact with an infected individual may also spread the infection. Individu...

Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or bot...

General DiscussionWeil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnorma...

Haemophilus influenzae type b (Hib) is a type of bacteria that can cause serious infections, particularly in young children. It can lead to illnesses such as meningitis, pneumonia, and epiglottitis. The Hib vaccine is highly effective in preventin...

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow ...

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have...

Latex allergy facts Latex allergy is dramatically on the rise throughout the world. Latex allergy rises with exposure and is suspected to continue to rise until a latex substitute is found. Latex allergy can be s...

Dextrocardia with Situs Inversus is a rare heart condition characterized by abnormal positioning of the heart. In this condition, the tip of the heart (apex) is positioned on the right side of the chest. Additionally, the position of the heart cha...

Respiratory depression (hypoventilation) is a breathing disorder characterized by slow and ineffective breathing. During a normal breathing cycle, you inhale oxygen into your lungs. Your blood carries the oxygen around your body, deliverin...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

General DiscussionCor triatriatum is an extremely rare congenital (present at birth) heart defect. Normally, the human heart has four chambers of which two are the atria. These two are separated from each other by a partition (septum) cal...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

General DiscussionWolff-Parkinson-White (WPW) syndrome is a rare congenital heart disorder involving irregularities in the electrical system of the heart. In individuals with WPW syndrome, an abnormal alternate electrical pathway (accesso...

X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth, but may first develop during infancy or early childho...