Overview
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have shorter-than-expected height (short stature), hearing loss (deafness), problems with a type of white blood cell called neutrophils (neutrophil dysfunction), and unusual facial or body features (dysmorphism). The neutrophil dysfunction means the immune system does not work properly, which can lead to frequent or severe infections because neutrophils are a key part of the body's defense against bacteria and fungi. The facial and body features may include distinctive facial characteristics that a doctor trained in genetics can recognize. Hearing loss can range in severity and may be present from birth or develop in early childhood. Short stature is usually noticeable during childhood growth. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually. This may include hearing aids or cochlear implants for hearing loss, growth hormone evaluation for short stature, and close monitoring and treatment of infections related to neutrophil dysfunction. Patients typically need care from multiple specialists working together to address the different aspects of this condition.
Also known as:
Key symptoms:
Short stature or growth delayHearing loss or deafnessFrequent or severe infectionsProblems with white blood cells (neutrophil dysfunction)Unusual facial featuresPossible skeletal abnormalitiesDelayed growth milestonesRecurrent skin infectionsRecurrent respiratory infectionsDistinctive body proportions
Clinical phenotype terms (8)— hover any for plain English
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-deafness-neutrophil dysfunction-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short stature-deafness-neutrophil dysfunction-dysmorphism 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-deafness-neutrophil dysfunction-dysmorphism 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
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.How severe is my child's neutrophil dysfunction, and what does that mean for infection risk?,Should my child take preventive antibiotics or other medications to reduce infections?,What type of hearing loss does my child have, and what are the best options for hearing support?,Is growth hormone therapy appropriate for my child's short stature?,Are there any genetic tests that could help identify the exact cause of this syndrome?,What signs of infection should prompt an emergency room visit?,How often should blood counts and hearing be monitored?
Common questions about Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
What is Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome?
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have shorter-than-expected height (short stature), hearing loss (deafness), problems with a type of white blood cell called neutrophils (neutrophil dysfunction), and unusual facial or body features (dysmorphism). The neutrophil dysfunction means the immune system does not work properly, which can lead to frequent or severe infections because neutrophils are a key part of the body's defense agains
How is Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome inherited?
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome typically begin?
Typical onset of Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.