Nestor-Guillermo progeria syndrome
Nestor-Guillermo progeria syndrome
Definition
A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life.
Also known as BANF1-related neurodevelopmental syndrome, Nestor-Guillermo progeria syndrome, NGPS — per MONDO