Overview
Short stature-optic atrophy-Pelger-Huët anomaly syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by three main features: shorter-than-expected height (short stature), progressive loss of vision due to damage to the optic nerve (optic atrophy), and an unusual appearance of certain white blood cells called neutrophils, known as Pelger-Huët anomaly. In Pelger-Huët anomaly, the nuclei of neutrophils have fewer lobes than normal, giving them a distinctive look under the microscope. This blood cell change usually does not cause immune problems on its own but serves as an important diagnostic clue. Patients may also experience additional features that can vary from person to person. The optic atrophy can lead to reduced visual sharpness and may worsen over time, potentially causing significant vision impairment. The short stature is typically noticed during childhood when growth falls behind expected patterns. Because this syndrome is so rare, the full range of symptoms and their severity are still being understood. There is currently no cure for this condition. Treatment focuses on managing individual symptoms. Vision support, growth monitoring, and regular blood work are important parts of ongoing care. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Short stature or slow growthVision loss due to optic nerve damageAbnormal appearance of white blood cells (Pelger-Huët anomaly)Reduced visual sharpnessPale or abnormal-looking optic disc on eye examDelayed growth milestonesPossible mild developmental differences
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Short stature-optic atrophy-Pelger-Huët anomaly syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Short stature-optic atrophy-Pelger-Huët anomaly syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Short stature-optic atrophy-Pelger-Huët anomaly 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 Short stature-optic atrophy-Pelger-Huët anomaly syndrome.
Community
No community posts yet. Be the first to share your experience with Short stature-optic atrophy-Pelger-Huët anomaly syndrome.
Start the conversation →Latest news about Short stature-optic atrophy-Pelger-Huët anomaly syndrome
No recent news articles for Short stature-optic atrophy-Pelger-Huët anomaly syndrome.
Follow this condition to be notified when news becomes available.
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.What is the expected course of the optic atrophy, and how often should vision be checked?,Is growth hormone therapy an option for my child's short stature?,Should we pursue genetic testing, and what type is recommended?,Does the Pelger-Huët anomaly affect my child's immune system or risk of infection?,What school or workplace accommodations should we request for vision problems?,Are there any clinical trials or research studies we could participate in?,What other specialists should be part of our care team?
Common questions about Short stature-optic atrophy-Pelger-Huët anomaly syndrome
What is Short stature-optic atrophy-Pelger-Huët anomaly syndrome?
Short stature-optic atrophy-Pelger-Huët anomaly syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by three main features: shorter-than-expected height (short stature), progressive loss of vision due to damage to the optic nerve (optic atrophy), and an unusual appearance of certain white blood cells called neutrophils, known as Pelger-Huët anomaly. In Pelger-Huët anomaly, the nuclei of neutrophils have fewer lobes than normal, giving them a distinctive look under the microscope. This blood cell change usually does not cause immune
How is Short stature-optic atrophy-Pelger-Huët anomaly syndrome inherited?
Short stature-optic atrophy-Pelger-Huët anomaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-optic atrophy-Pelger-Huët anomaly syndrome typically begin?
Typical onset of Short stature-optic atrophy-Pelger-Huët anomaly syndrome is childhood. Age of onset can vary across affected individuals.