Conditions / Syndrome
Nestor-Guillermo progeria syndrome
info · Syndrome
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
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.
Signs and symptoms
- Short stature
- Flexion contracture
- Sparse eyebrow
- Dry skin
- Dental crowding
- Joint stiffness
- Spotty hyperpigmentation
- Midface retrusion
- Convex nasal ridge
- Delayed closure of the anterior fontanelle
Also known as: Progeria syndrome, childhood-onset, with osteolysis