Hyperlipoproteinemia type IV- MedGen UID:
- 9365
- •Concept ID:
- C0020480
- •
- Disease or Syndrome
On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption.
Hutchinson-Gilford syndrome- MedGen UID:
- 46123
- •Concept ID:
- C0033300
- •
- Disease or Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.5 years.
Hypertriglyceridemia 1- MedGen UID:
- 1787149
- •Concept ID:
- C5444012
- •
- Disease or Syndrome