Term Name
Nestor-Guillermo progeria syndrome
External Reference
Synonyms
NGPS, Nestor-Guillermo progeria syndrome, BANF1-related neurodevelopmental 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.