Living with Marfanoid habitus-inguinal hernia-advanced bone age syndrome
A rare genetic condition with tall height, a groin hernia, distinct facial features, and bones that mature early.
Understanding Marfanoid habitus-inguinal hernia-advanced bone age syndrome
It includes tall height, a bulge in the groin (inguinal hernia), distinct facial features, and X-rays showing bones that are older than the person's age. Other features include loose joints, long fingers and toes, mild muscle weakness, nearsightedness, and foot differences. It can start in pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Tall height
- Groin hernia (inguinal hernia)
- Bone age older than actual age
- Loose joints and long fingers
- Mild muscle weakness
- Nearsightedness and foot 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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 genes (also called variants) cause this condition. GARD does not name a specific gene.
Also known as: marfanoid habitus, inguinal hernia, advanced bone age syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Marfanoid habitus-inguinal hernia-advanced bone age syndrome.
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