Overview
Acrodysostosis with multiple hormone resistance is a rare genetic condition that affects bone development and the body's ability to respond to certain hormones. This entry is now considered obsolete in medical databases because the condition has been reclassified and is now recognized as Acrodysostosis type 1 (caused by changes in the PRKAR1A gene). People with this condition typically have shortened bones in the hands and feet (brachydactyly), a flattened nose with a small upturned tip, and short stature. A key feature is that the body does not respond properly to several hormones, most notably parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH). This hormone resistance can lead to low calcium levels, high phosphorus levels, and underactive thyroid function. Many affected individuals also experience some degree of intellectual disability or developmental delay. Facial features may include a broad, flat face and widely spaced eyes. The condition is present from birth, and skeletal abnormalities can often be seen on X-rays early in life. Treatment focuses on managing hormone imbalances with replacement therapy and supporting development through early intervention programs. There is no cure, but with proper medical management, many symptoms can be effectively controlled.
Key symptoms:
Short fingers and toesShort statureFlattened nasal bridge with small upturned noseBroad flat faceResistance to parathyroid hormone causing calcium problemsUnderactive thyroid due to hormone resistanceIntellectual disability or learning difficultiesDevelopmental delayAdvanced bone age on X-raysSmall hands and feetWidely spaced eyesDental problemsHearing difficultiesObesity or weight gain
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Acrodysostosis with multiple hormone resistance.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Acrodysostosis with multiple hormone resistance.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Acrodysostosis with multiple hormone resistance.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which hormones are affected in my child, and how will they be monitored over time?,What calcium and vitamin D supplements are needed, and how often should blood levels be checked?,Is thyroid hormone replacement needed, and what are the signs it may need adjusting?,What developmental therapies would benefit my child, and when should they start?,Should we consider growth hormone therapy, and what are the expected benefits and risks?,How often should X-rays or bone age assessments be done?,Are there any clinical trials or new research studies we should know about?
Common questions about OBSOLETE: Acrodysostosis with multiple hormone resistance
What is OBSOLETE: Acrodysostosis with multiple hormone resistance?
Acrodysostosis with multiple hormone resistance is a rare genetic condition that affects bone development and the body's ability to respond to certain hormones. This entry is now considered obsolete in medical databases because the condition has been reclassified and is now recognized as Acrodysostosis type 1 (caused by changes in the PRKAR1A gene). People with this condition typically have shortened bones in the hands and feet (brachydactyly), a flattened nose with a small upturned tip, and short stature. A key feature is that the body does not respond properly to several hormones, most notab
How is OBSOLETE: Acrodysostosis with multiple hormone resistance inherited?
OBSOLETE: Acrodysostosis with multiple hormone resistance follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Acrodysostosis with multiple hormone resistance typically begin?
Typical onset of OBSOLETE: Acrodysostosis with multiple hormone resistance is neonatal. Age of onset can vary across affected individuals.