Overview
Mikati-Najjar-Sahli syndrome is an extremely rare condition that falls under the category of endocrine disorders. It is also sometimes referred to by its Orphanet designation ORPHA:2558. This syndrome involves abnormalities in hormone regulation, specifically related to the pituitary gland and growth hormone pathways, as suggested by its ICD-10 classification under E22.8 (other conditions of hyperfunction of the pituitary gland). Because this condition is so rare, detailed medical literature is very limited, and much of what is known comes from a small number of reported cases. The syndrome has been described in association with features that may include growth abnormalities, developmental concerns, and other endocrine-related symptoms. Patients may experience unusual growth patterns, hormonal imbalances, and potentially other systemic effects depending on the severity and specific hormonal pathways involved. Because of the rarity of this condition, there is no standardized treatment protocol, and management is typically tailored to each patient's specific symptoms. Treatment generally focuses on correcting hormonal imbalances and addressing individual symptoms as they arise. Patients benefit from close follow-up with endocrinologists and clinical geneticists who can coordinate care across specialties.
Key symptoms:
Abnormal growth patternsHormonal imbalancesPituitary gland dysfunctionPossible developmental delaysUnusual body proportions
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mikati-Najjar-Sahli syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mikati-Najjar-Sahli syndrome.
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 Mikati-Najjar-Sahli syndrome.
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 specific hormonal imbalances does my child or I have, and how will they be treated?,How often should hormone levels be checked?,Are there any growth-related concerns I should watch for?,Should we pursue genetic testing to better understand the cause?,Are there other specialists I should see in addition to an endocrinologist?,What are the long-term expectations for this condition?,Are there any clinical studies or registries for this rare syndrome that I can participate in?
Common questions about Mikati-Najjar-Sahli syndrome
What is Mikati-Najjar-Sahli syndrome?
Mikati-Najjar-Sahli syndrome is an extremely rare condition that falls under the category of endocrine disorders. It is also sometimes referred to by its Orphanet designation ORPHA:2558. This syndrome involves abnormalities in hormone regulation, specifically related to the pituitary gland and growth hormone pathways, as suggested by its ICD-10 classification under E22.8 (other conditions of hyperfunction of the pituitary gland). Because this condition is so rare, detailed medical literature is very limited, and much of what is known comes from a small number of reported cases. The syndrome h