Living with Metaphyseal acroscyphodysplasia
An extremely rare bone condition with short stature, short limbs, and a distinct look on X-rays.
Understanding Metaphyseal acroscyphodysplasia
X-rays show cone-shaped bone ends sitting in large cup-shaped parts of the leg bones near the knee. The hands can have short fingers. Developmental delay and hair loss have been reported in some cases.
Signs & symptoms
GARD doesn't list a separate symptom list, but its summary describes these:
- Short stature
- Short arms and legs (micromelia)
- Short fingers (brachydactyly)
- Developmental delay in some people
- Hair loss in some people
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: bellini syndrome; cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome; wedge-shaped epiphyses of knees
Patient organizations
- Little People of AmericaMetaphyseal acroscyphodysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal acroscyphodysplasia.
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