Sitosterolemia (also known as Phytosterolemia) is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia tendon […]
List of articles in "Disease" category - Page 294
Denys–Drash syndrome
Denys–Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by gonadal dysgenesis nephropathy and Wilms tumor.
Subdural hygroma
A subdural hygroma is a subdural body of cerebrospinal fluid (CSF) without blood. Most subdural hygromas are believed to be derived from chronic subdural hematomas. It is commonly seen in […]
Contracture
This article refers to orthopedic contractures i.e. permanent shortening of muscles tendons and/or ligaments. For short-term contraction of muscles including the normal action and function of muscles see Muscle contraction. […]
Frey’s syndrome
Frey’s syndrome (also known as Baillarger’s syndrome Dupuy’s syndrome auriculotemporal syndrome or Frey-Baillarger syndrome) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for […]
Dysostosis
A dysostosis is a disorder of the development of bone in particular affecting ossification.• These are classified into 3 groups• They are due to altered blastogenesis occurring during the 1st […]
Short rib – polydactyly syndrome
Short rib – polydactyly syndrome is a family of four closely related dysplasias: I – Saldino-Noonan type II – Majewski type III – Verma-Naumoff type (associated with DYNC2H1) IV – […]
Osteochondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone (osteo) and cartilage (chondro).
Aneurysmal bone cyst
Aneurysmal bone cyst abbreviated ABC is an osteolytic bone neoplasm characterized by several sponge-like blood or serum filled generally non-endothelialized spaces of various diameters.
Dejerine–Sottas disease
Dejerine–Sottas disease also known as Dejerine–Sottas syndrome Dejerine–Sottas neuropathy progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy (and hereditary motor and sensory polyneuropathy type III and Charcot–Marie–Tooth disease […]