List of articles in "Disease" category - Page 394

Infants with achondrogenesis type 2 have short arms and legs a small chest with short ribs and underdeveloped lungs. Achondrogenesis type 2 is a subtype of collagenopathy types II and […]

Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis. […]

Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected […]

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy particularly during periods without food. Those affected […]

Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy particularly during periods without food . People with […]

Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy particularly during periods without food. Carnitine a natural substance […]

Giant axonal neuropathy is a rare autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons […]

Inferior vena cava syndrome (IVCS) is a result of obstruction of the inferior vena cava. It can be caused by invasion or compression by a pathological process or by thrombosis […]

Facioscapulohumeral muscular dystrophy (sometimes switched as faciohumeroscapular) (FSHMD FSHD or FSH) which is also known as Landouzy-Dejerine is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially […]