Living with Angel-shaped phalango-epiphyseal dysplasia
A rare bone condition with short fingers, hip changes, and sometimes tooth differences and slow bone maturation.
Understanding Angel-shaped phalango-epiphyseal dysplasia
Some bones of the hand are short, mainly the first metacarpals and the middle bones of the second, third, and fifth fingers. The ends of the hip bones change, and some people have tooth differences and delayed bone age. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle finger bones
- Short height
- Hip dysplasia
- Hip osteoarthritis
- Late-coming teeth
- Fewer teeth than usual (hypodontia)
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.
- 3Consider genetic testing
Changes in GDF5 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)
- 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 the GDF5 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: angel-shaped phalangoepiphyseal dysplasia; asped; asped - angel-shaped phalango-epiphyseal dysplasia
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 Angel-shaped phalango-epiphyseal dysplasia.
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