Overview
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (also known as NEDSOSS or Neurological, Endocrine, and Skeletal Syndrome) is an extremely rare genetic condition that affects multiple body systems. It is caused by mutations in the ALPL gene or related genes and involves a combination of intellectual disability, seizures, low alkaline phosphatase levels (hypophosphatasia), eye abnormalities, and skeletal problems. People with this syndrome typically show developmental delays from early life, including difficulty learning, speaking, and reaching milestones. Seizures can begin in infancy or childhood and may vary in severity. The skeletal features can include abnormal bone development, short stature, and joint problems. Eye abnormalities may affect vision and can include structural changes in the eye. The low alkaline phosphatase enzyme activity (hypophosphatasia) can lead to problems with bone and tooth mineralization. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, such as anti-seizure medications for epilepsy, physical therapy for skeletal issues, vision correction for eye problems, and educational support for intellectual disability. A team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Intellectual disabilitySeizures or epilepsyLow alkaline phosphatase levels in the bloodAbnormal bone developmentShort statureEye abnormalitiesDelayed speech and languageDelayed motor milestones like walkingJoint problems or stiffnessDental abnormalities such as early tooth lossMuscle weakness or low muscle toneVision problemsLearning difficultiesBehavioral challenges
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies 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 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies 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.What specific genetic mutation does my child have, and how does it affect the severity of the condition?,What seizure medications are best suited for my child, and what side effects should I watch for?,Would enzyme replacement therapy (asfotase alfa) be appropriate for the hypophosphatasia component?,How often should my child have eye exams, bone density scans, and other monitoring tests?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies my child might be eligible for?,What is the long-term outlook for my child's development and independence?
Common questions about Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
What is Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome?
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (also known as NEDSOSS or Neurological, Endocrine, and Skeletal Syndrome) is an extremely rare genetic condition that affects multiple body systems. It is caused by mutations in the ALPL gene or related genes and involves a combination of intellectual disability, seizures, low alkaline phosphatase levels (hypophosphatasia), eye abnormalities, and skeletal problems. People with this syndrome typically show developmental delays from early life, including difficulty learning, speaking, and reaching milestone
How is Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome inherited?
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome typically begin?
Typical onset of Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome is infantile. Age of onset can vary across affected individuals.