Living with Fontaine progeroid syndrome
A rare genetic syndrome present from birth with early closing of skull bones, an older-looking appearance, and distinctive facial features.
Understanding Fontaine progeroid syndrome
It causes early closing of skull bones (craniosynostosis), which affects head and face shape. Facial features can include a sunken midface and small eyes. A lack of fat under the skin, with thin, wrinkled skin and visible veins, gives a look of premature aging. Extra hair growth, short end bones of the fingers and toes, and dental problems also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early skull bone closing (craniosynostosis)
- Small head size
- Sunken midface and small lower jaw
- Thin, loose skin that looks older than age
- Extra hair growth (hypertrichosis)
- Heart differences
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 autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SLC25A24 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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
Changes in the SLC25A24 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora; craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies; cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasFontaine progeroid syndrome · United States
- Progeria Research Foundation, Inc.Fontaine progeroid syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fontaine progeroid syndrome.
Explore research for Fontaine progeroid syndrome
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