At Acrodysostosis Support and Research we are encouraging medical
professionals to #Take5 minutes out of their busy schedules to
familiarise themselves the symptoms of acrodysostosis.
Recognising these symptoms in your patients could help them on
their way to a diagnosis, and change their lives for the better.
For 21 years, I thought I had
something else. Finding out
it was acrodysostosis finally
gave me answers.
Brie Kearney
Patient/advocate
The symptoms of acrodysostosis can be subtle, but recognising the signs could unlock a diagnosis that paves the way to vital support and resources.
Brachydactyly is often the most noticeable symptom.
We’ve created the HANDS acrostic to help you remember this and other important indicators.
Take 5 minutes to remember these 5 symptoms and you could change lives
Hands and feet are abnormally small with short, stubby fingers
and toes (brachydactyly)
1–3
Atypical skeletal formation, including
possible spinal curvature abnormalities
2
Nasal structure
is flatter
and face is broader
with widely
spaced eyes
1–3
Developmental delays may result in short stature and, in some cases, intellectual disability
2,3
Symptoms of hormonal deficiency can appear due to specific hormonal resistance (e.g.
PTH and TSH)
3
You don’t need to wait for all
the symptoms to suggest a diagnosis of acrodysostosis. Short stature, short fingers, or developmental
delays should be enough to prompt further investigation.
- Prof Agnes Linglart,
Paediatric Endocrinologist and Professor of Paediatrics, Head of the French National Center of Reference for rare disorders of calcium and phosphorus metabolism, coordinator of the network of physicians and molecular biologists working on these disorders.
If you notice symptoms in your patients,
here’s what you should do:
If a patient presents with a combination of any of the 5 symptoms described in our HANDS acrostic, think beyond more common conditions and consider acrodysostosis in your differential diagnosis.
1
Consider acrodysostosis
Promptly refer patients to an endocrinologist or clinical geneticist for further evaluation and testing.
2
Refer to a specialist
If appropriate, discuss molecular testing with a specialist to confirm a diagnosis, especially if the presentation is unclear.
3
Request genetic testing
Timely referral and testing can help patients access the care and support they need sooner, improving outcomes and quality of life.
4
Act early
General practitioners and
non-specialist clinicians play a critical role in recognising the subtle signs of acrodysostosis. Without their curiosity and awareness, patients may go undiagnosed for years.
- Dr Giovanna Mantovani, Associate Professor of Endocrinology and Head of the “Referral Center for the Study and Care of Pituitary Tumors” at Fondazione IRCCS Ca’ Granda Policlinico, Milan
What to do next?
References:
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1. Genetic and Rare Diseases (GARD) Information Center. Acrodysostosis. Accessed January 2025. https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis. 2. National Organization for Rare Disorders (NORD). Acrodysostosis. Accessed January 2025. https://rarediseases.org/rare-diseases/acrodysostosis/. 3. Orphanet. Acrodysostosis. Accessed January 2025. https:/www.orpha.net/en/disease/detail/950.
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PTH, parathyroid hormone; TSH, thyroid stimulating hormone.