Living with Progeroid and marfanoid aspect-lipodystrophy syndrome
A rare condition from birth with an aged look, almost no fat under the skin, and some features of Marfan syndrome such as nearsightedness and loose joints.
Understanding Progeroid and marfanoid aspect-lipodystrophy syndrome
Newborns look older, without other signs of early aging. They have almost no fat under the skin (except in the breast and hip areas) and distinctive facial features. Marfan-like signs include severe nearsightedness, very flexible joints and long thin fingers. GARD says metabolic problems are not associated.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Almost no fat under the skin
- Aged look from birth
- Large head and bulging, deep-set eyes
- Severe nearsightedness and eye lens displacement
- Very flexible finger joints
- Feeding difficulties in infancy
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 and genetic specialists.
- 3Consider genetic testing
Changes in FBN1 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
The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Marfan Foundation
- 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
Changes in the FBN1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: marfan lipodystrophy syndrome; marfan-progeroid-lipodystrophy syndrome; marfanoid-progeroid syndrome; marfanoid-progeroid-lipodystrophy syndrome
Patient organizations
- Progeria Research Foundation, Inc.Progeroid and marfanoid aspect-lipodystrophy syndrome · United States
- The Marfan FoundationProgeroid and marfanoid aspect-lipodystrophy syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Progeroid and marfanoid aspect-lipodystrophy syndrome.
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