Overview
This condition is classified by Orphanet under code 314749 as a rare disease grouping where adrenal Cushing syndrome is a major clinical feature. Adrenal Cushing syndrome occurs when the adrenal glands, which sit on top of the kidneys, produce too much cortisol — a hormone that helps regulate blood pressure, blood sugar, and the body's stress response. When cortisol levels stay too high for a long time, it can cause a wide range of health problems throughout the body. Patients with this group of conditions typically develop weight gain (especially around the midsection and face), thinning skin that bruises easily, muscle weakness, high blood pressure, high blood sugar, and mood changes. The excess cortisol comes directly from the adrenal glands themselves, which may be affected by tumors (benign or cancerous), abnormal growth (hyperplasia), or genetic conditions that cause the adrenal glands to overproduce cortisol. Treatment depends on the specific underlying cause. Surgery to remove the affected adrenal gland is often the primary treatment. Medications that block cortisol production may be used when surgery is not possible or as a bridge before surgery. Because this is a grouping of several rare conditions, the exact genetic cause, inheritance pattern, and prognosis vary depending on the specific diagnosis within this category. Conditions in this group include primary pigmented nodular adrenocortical disease (PPNAD), ACTH-independent macronodular adrenal hyperplasia (AIMAH), and adrenocortical carcinoma, among others.
Key symptoms:
Unexplained weight gain, especially around the belly and face (moon face)Round, puffy faceFat buildup between the shoulders (buffalo hump)Thin skin that bruises easilyPurple or red stretch marks on the belly, thighs, or armsMuscle weakness, especially in the legsHigh blood pressureHigh blood sugar or diabetesBone thinning (osteoporosis) and fracturesMood changes, anxiety, or depressionFatigue and trouble sleepingSlow wound healingIncreased infectionsIrregular or absent menstrual periods in womenExcess body hair growth in women
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disease with adrenal Cushing syndrome as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Rare disease with adrenal Cushing syndrome as a major feature.
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 Rare disease with adrenal Cushing syndrome as a major feature.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.What is the specific cause of my adrenal Cushing syndrome, and is it genetic?,Should my family members be tested for a genetic condition?,Is surgery recommended, and if so, will I need one or both adrenal glands removed?,Will I need lifelong hormone replacement therapy after treatment?,What are the signs of adrenal crisis, and what should I do in an emergency?,How long will it take for my symptoms to improve after treatment?,What monitoring and follow-up tests will I need long-term?
Common questions about Rare disease with adrenal Cushing syndrome as a major feature
What is Rare disease with adrenal Cushing syndrome as a major feature?
This condition is classified by Orphanet under code 314749 as a rare disease grouping where adrenal Cushing syndrome is a major clinical feature. Adrenal Cushing syndrome occurs when the adrenal glands, which sit on top of the kidneys, produce too much cortisol — a hormone that helps regulate blood pressure, blood sugar, and the body's stress response. When cortisol levels stay too high for a long time, it can cause a wide range of health problems throughout the body. Patients with this group of conditions typically develop weight gain (especially around the midsection and face), thinning ski