Living with Nestor-Guillermo progeria syndrome
A rare genetic condition with an older-looking appearance, bone loss, little body fat, and stiff joints, starting in childhood.
Understanding Nestor-Guillermo progeria syndrome
It involves severe bone loss (osteolysis), weak bones (osteoporosis), and little body fat. People do not have the heart, artery, and metabolic problems seen in some other progeria forms. Other features include slow growth, stiff joints, wide gaps between skull bones, distinct facial features, and persistent eyebrows, eyelashes, and scalp hair.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone loss (osteolysis)
- Slow growth
- Joint stiffness
- Dry skin and hair loss
- Dental crowding and bite problems
- Beaked nose and thin lips
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in BANF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Progeria Research Foundation, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the BANF1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: banf1-related neurodevelopmental syndrome; nestor guillermo progeria syndrome; ngps; ngps - nestor guillermo progeria syndrome; progeria syndrome, childhood-onset, with osteolysis
Patient organizations
- Progeria Research Foundation, Inc.Nestor-Guillermo progeria syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Nestor-Guillermo progeria syndrome.
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