Overview
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic condition that affects brain development, growth, and physical appearance. The name describes the main features: microcephaly means the head and brain are smaller than usual, short stature means affected individuals are shorter than expected for their age, and intellectual disability means learning and thinking skills are affected to varying degrees. The condition is also sometimes referred to by the abbreviation MSIDFD. This syndrome affects multiple parts of the body from before birth. The smaller brain size can lead to delays in reaching milestones like sitting, walking, and talking. Facial features often look different from those of unaffected family members, and these differences can help doctors recognize the condition. Some individuals may also have other health concerns such as feeding difficulties in infancy or behavioral challenges. There is currently no cure for this syndrome. Care focuses on supporting each person's development and quality of life. This includes early intervention therapies such as speech therapy, physical therapy, and occupational therapy, along with educational support. A team of specialists works together to manage the different aspects of the condition and help individuals reach their full potential.
Key symptoms:
Smaller than normal head size (microcephaly)Shorter than average height (short stature)Intellectual disability ranging from mild to severeDelayed speech and language developmentDelayed motor milestones such as sitting and walkingDistinctive facial features such as widely spaced eyes, a small jaw, or a flat nasal bridgeFeeding difficulties in infancyBehavioral challengesLow muscle tone (hypotonia)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-short stature-intellectual disability-facial 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 Microcephaly-short stature-intellectual disability-facial 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.What specific genetic change was found in my child, and what does it mean for their health and development?,What therapies should we start right away, and how often should they happen?,Are there any other health problems we should watch for, such as seizures or vision issues?,What educational support will my child need, and how do we access it?,Is there a risk that future children could be affected, and should other family members be tested?,Are there any clinical trials or research studies we could consider joining?,What does the future look like for my child in terms of independence and daily living?
Common questions about Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
What is Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome?
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic condition that affects brain development, growth, and physical appearance. The name describes the main features: microcephaly means the head and brain are smaller than usual, short stature means affected individuals are shorter than expected for their age, and intellectual disability means learning and thinking skills are affected to varying degrees. The condition is also sometimes referred to by the abbreviation MSIDFD. This syndrome affects multiple parts of the body from before birth. The small
How is Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome inherited?
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome typically begin?
Typical onset of Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.