Синдром гемігіперплазії-множинного ліпоматозу
ORPHA:276280· ICD-10 Q87.3· Hemihyperplasia-multiple lipomatosis syndrome
Визначення(English summary)
Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable
- Вік початку
- Childhood