Overview
Night blindness-skeletal anomalies-dysmorphism syndrome (also known as Spranger-Menger syndrome or OMIM 269500) is an extremely rare genetic condition that affects multiple body systems. The hallmark features include night blindness (difficulty seeing in low light or darkness), bone and skeletal abnormalities, and distinctive facial features (dysmorphism). People with this condition may have short stature, unusual bone development, and changes in the shape of the face and skull. The night blindness is typically present from early childhood and results from problems with how the eyes detect light in dim conditions. Skeletal problems can include short limbs, abnormal vertebrae (bones of the spine), and other bone shape differences that may be visible on X-rays. Facial features may include a flat midface, a broad or depressed nasal bridge, and other subtle differences. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not completely understood. Currently, there is no cure, and treatment focuses on managing individual symptoms such as vision support, orthopedic care for bone problems, and regular monitoring of growth and development. A team of specialists is usually needed to provide the best care for affected individuals.
Also known as:
Key symptoms:
Difficulty seeing in dim light or at night (night blindness)Short statureAbnormal bone developmentDistinctive facial featuresFlat or broad nasal bridgeShort limbsAbnormal shape of the spine bonesFlat midfaceDelayed growthJoint stiffness or limited joint movementVision problems beyond night blindness
Clinical phenotype terms (23)— 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 Night blindness-skeletal anomalies-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Night blindness-skeletal anomalies-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 Night blindness-skeletal anomalies-dysmorphism syndrome.
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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 specific tests should my child have to confirm this diagnosis?,Should we pursue whole exome or whole genome sequencing to look for a genetic cause?,How often should my child have eye exams and skeletal evaluations?,Are there any treatments or therapies that can help with the night blindness?,What kind of school accommodations should we request?,Is genetic counseling recommended for our family regarding future pregnancies?,Are there any research studies or registries we can join?
Common questions about Night blindness-skeletal anomalies-dysmorphism syndrome
What is Night blindness-skeletal anomalies-dysmorphism syndrome?
Night blindness-skeletal anomalies-dysmorphism syndrome (also known as Spranger-Menger syndrome or OMIM 269500) is an extremely rare genetic condition that affects multiple body systems. The hallmark features include night blindness (difficulty seeing in low light or darkness), bone and skeletal abnormalities, and distinctive facial features (dysmorphism). People with this condition may have short stature, unusual bone development, and changes in the shape of the face and skull. The night blindness is typically present from early childhood and results from problems with how the eyes detect lig
How is Night blindness-skeletal anomalies-dysmorphism syndrome inherited?
Night blindness-skeletal anomalies-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Night blindness-skeletal anomalies-dysmorphism syndrome typically begin?
Typical onset of Night blindness-skeletal anomalies-dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.