Overview
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome is an extremely rare genetic condition that affects brain development, vision, and movement. The disease is sometimes referred to by its Orphanet designation (ORPHA:404473). It is characterized by a combination of intellectual disability (difficulty with learning, reasoning, and problem-solving), abnormalities of the eyes, an unusually small head size (microcephaly), and stiffness or tightness in the muscles of the arms and legs (peripheral spasticity). Because the brain does not develop as expected, children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. Eye problems can vary but may include structural abnormalities that affect vision. The peripheral spasticity can make movement difficult and may worsen over time. Because this syndrome is so rare, there is currently no cure or disease-specific treatment. Management focuses on supportive care, including physical therapy to address spasticity, special education services for intellectual disability, and ophthalmologic care for eye abnormalities. A team of specialists is usually needed to address the various aspects of this condition. Early intervention with therapies can help maximize a child's abilities and quality of life.
Key symptoms:
Intellectual disability or learning difficultiesUnusually small head size (microcephaly)Eye abnormalities or vision problemsMuscle stiffness or tightness in the arms and legsDelayed developmental milestonesDifficulty walking or problems with movementSpeech and language delaysPoor coordinationDifficulty with fine motor skillsPossible seizuresFeeding difficulties in infancy
Clinical phenotype terms (32)— 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-eye abnormalities-microcephaly-peripheral spasticity syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity 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-eye abnormalities-microcephaly-peripheral spasticity syndrome.
Community
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Start the conversation →Latest news about Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
Disease timeline:
New recruiting trial: CTNNB1 Neurodevelopmental Syndrome - Natural History Study
A new clinical trial is recruiting patients for Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
New recruiting trial: Gene Replacement Therapy for Treatment of Paediatric Patients With CTNNB1 Neurodevelopmental Syndrome
A new clinical trial is recruiting patients for Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
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 testing should be done to confirm the diagnosis?,How severe is the intellectual disability, and what therapies can help maximize my child's potential?,What type of eye abnormalities are present, and how should they be treated?,What medications or therapies are available to manage the muscle stiffness?,Are there any clinical trials or research studies we should consider?,What early intervention services should we start right away?,What is the long-term outlook, and what level of support will my child likely need as they grow?
Common questions about Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
What is Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome?
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome is an extremely rare genetic condition that affects brain development, vision, and movement. The disease is sometimes referred to by its Orphanet designation (ORPHA:404473). It is characterized by a combination of intellectual disability (difficulty with learning, reasoning, and problem-solving), abnormalities of the eyes, an unusually small head size (microcephaly), and stiffness or tightness in the muscles of the arms and legs (peripheral spasticity). Because the brain does not develop as expected, children
How is Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome inherited?
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome typically begin?
Typical onset of Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome is infantile. Age of onset can vary across affected individuals.