Overview
Sagliker syndrome is a very rare condition that develops as a complication of long-standing chronic kidney disease (also called chronic renal failure) and the severe secondary hyperparathyroidism that comes with it. Secondary hyperparathyroidism means the parathyroid glands in the neck become overactive because the kidneys can no longer properly balance calcium and phosphorus in the blood. Over time, this leads to dramatic changes in the bones of the face and skull, causing a characteristic ugly facial appearance that includes a short and flattened nose, enlarged jaw, and misshapen skull. The syndrome was first described by Dr. Yahya Sagliker in 2004. Patients with Sagliker syndrome typically have been on dialysis or have had poorly controlled kidney disease for years. The excess parathyroid hormone causes the bones to weaken and reshape, particularly in the face and skull. Other features can include short stature, hearing loss, vision problems, dental abnormalities, and fingertip changes. The facial deformity can be quite severe and affects quality of life significantly. Treatment focuses on controlling the underlying kidney disease and hyperparathyroidism. This may include medications to lower parathyroid hormone levels, phosphate binders, vitamin D supplements, and in many cases surgical removal of the parathyroid glands (parathyroidectomy). Some patients may also need corrective facial or jaw surgery. Early and aggressive management of secondary hyperparathyroidism in kidney disease patients is key to preventing this syndrome from developing.
Key symptoms:
Severe changes in facial appearance (ugly face deformity)Flattened or shortened noseEnlarged or protruding jawMisshapen skullShort statureHearing lossVision problemsDental abnormalities or tooth lossBone painWeakened and fragile bonesSwollen or clubbed fingertipsDifficulty breathing through the noseFatigue and weaknessPale skin from anemia
Clinical phenotype terms (13)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Sagliker syndrome.
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Specialists
View all specialists →No specialists are currently listed for Sagliker 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 Sagliker syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 my current parathyroid hormone level, and what is the target we are aiming for?,Would parathyroidectomy (surgery to remove the parathyroid glands) be beneficial in my case?,Am I a candidate for kidney transplantation, and how would that affect this condition?,Are there surgical options to correct the facial bone changes?,What dietary changes should I make to help control my phosphorus and calcium levels?,How often should my blood levels and bone health be monitored?,Can you refer me to a mental health professional to help me cope with the emotional impact of this condition?
Common questions about Sagliker syndrome
What is Sagliker syndrome?
Sagliker syndrome is a very rare condition that develops as a complication of long-standing chronic kidney disease (also called chronic renal failure) and the severe secondary hyperparathyroidism that comes with it. Secondary hyperparathyroidism means the parathyroid glands in the neck become overactive because the kidneys can no longer properly balance calcium and phosphorus in the blood. Over time, this leads to dramatic changes in the bones of the face and skull, causing a characteristic ugly facial appearance that includes a short and flattened nose, enlarged jaw, and misshapen skull. The
How is Sagliker syndrome inherited?
Sagliker syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sagliker syndrome typically begin?
Typical onset of Sagliker syndrome is adult. Age of onset can vary across affected individuals.