MedGen

Inflammation of subcutaneous adipose tissue. [from HPO]

Upward and/or sideward growth of anterior hair. [from HPO]

A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. [from HPO]

Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild-to-moderate range and may also have the typical facial, hand, and skeletal findings noted in males. [from GeneReviews]

Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia. [from ORDO]

Steatosis is a term used to denote lipid accumulation within hepatocytes. [from HPO]

An increased concentration of glucose in the blood following a meal. [from HPO]

An increased concentration of glucose in the blood. [from HPO]