Overview
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is an extremely rare genetic condition that primarily affects brain development and function. This disorder is characterized by three main features: severe intellectual disability, a head that becomes progressively smaller after birth (called postnatal microcephaly), and repetitive hand movements that occur along the midline of the body, such as hand-wringing or hand-washing motions. Children with this condition typically appear normal at birth but begin showing signs of developmental delay in infancy. Over time, the head grows more slowly than expected, and affected individuals develop significant challenges with thinking, learning, communication, and motor skills. The repetitive hand movements are a distinctive feature and may resemble those seen in Rett syndrome, though this is a separate condition. Additional features can include seizures, sleep disturbances, breathing irregularities, and problems with movement and coordination. Because this is such a rare condition, treatment is primarily supportive and focused on managing individual symptoms. There is currently no cure, and care involves a team of specialists working together to address the various medical and developmental needs of the affected person. Early intervention with therapies such as physical therapy, occupational therapy, and speech therapy can help maximize the individual's abilities and quality of life.
Also known as:
Key symptoms:
Severe intellectual disabilityHead becoming progressively smaller after birthRepetitive hand-wringing or hand-washing movementsDelayed developmental milestonesSeizures or epilepsyDifficulty with speech and communicationProblems with walking and coordinationSleep disturbancesBreathing irregularities such as breath-holding or hyperventilationPoor muscle tone or stiffnessFeeding difficultiesLimited or absent purposeful hand useIrritability or crying episodesReduced social interaction
Clinical phenotype terms (17)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements 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 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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 genetic testing has been done, and are there additional tests that could help identify the exact cause?,What therapies are recommended at this stage, and how often should they occur?,How should we monitor head growth and brain development over time?,What seizure medications are most appropriate, and what side effects should we watch for?,Are there any clinical trials or research studies that my child might be eligible for?,What feeding strategies or nutritional support would you recommend?,What resources are available for respite care and family support?
Common questions about Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
What is Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome?
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is an extremely rare genetic condition that primarily affects brain development and function. This disorder is characterized by three main features: severe intellectual disability, a head that becomes progressively smaller after birth (called postnatal microcephaly), and repetitive hand movements that occur along the midline of the body, such as hand-wringing or hand-washing motions. Children with this condition typically appear normal at birth but begin showing signs of developmental
At what age does Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome typically begin?
Typical onset of Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is infantile. Age of onset can vary across affected individuals.