Nestor-Guillermo progeria syndrome (DOID:0081334)
Alliance: disease page
Synonyms: Progeria syndrome, childhood-onset, with osteolysis
Alt IDs: OMIM:614008, ORDO:280576
Definition: A progeroid syndrome that is 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 and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.