Living with Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
A rare genetic syndrome present from birth with short broad thumbs, toe differences, a sunken chest and distinct facial features.
Understanding Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
It involves short, broad thumbs, short bent index fingers, curved fifth fingers, and broad big toes with an overlapping second toe. People also have a severely sunken chest (pectus excavatum) and facial differences. X-rays show extra bones in the thumb, index and middle fingers.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Short, broad thumbs
- Short, bent index fingers
- Broad big toes with an overlapping second toe
- Severe sunken chest (pectus excavatum)
- Differences in facial features
- Small lower jaw
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 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
- 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 cause it. GARD doesn't name a gene or describe how it is inherited.
Also known as: finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome; finger hyperphalangy, toe anomalies, severe pectus excavatum 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 Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome.
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