Overview
Short stature-microcephaly-heart defect syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. This entry is now considered obsolete in Orphanet, meaning it may have been reclassified or merged with another condition as scientific understanding has advanced. The syndrome was originally characterized by three main features: short stature (being significantly shorter than expected for age and sex), microcephaly (a smaller-than-normal head size, which can be associated with differences in brain development), and congenital heart defects (structural problems with the heart that are present at birth). Affected individuals may also experience developmental delays and intellectual disability, though the full range of symptoms can vary from person to person. Because this condition is so rare and the classification is now obsolete, there is limited information about its exact genetic cause, natural history, and optimal treatment. Management has generally been supportive and symptom-based, meaning doctors focus on treating each individual problem — for example, surgery or other interventions for heart defects, growth hormone evaluation for short stature, and developmental support services for any learning difficulties. Families affected by this condition should work closely with a clinical geneticist to determine whether a more current diagnosis or classification applies to their situation, as advances in genetic testing may now provide a more precise diagnosis.
Also known as:
Key symptoms:
Short stature or growth delayAbnormally small head size (microcephaly)Heart defects present at birthDevelopmental delaysIntellectual disabilityLow birth weightFeeding difficulties in infancyDelayed speech developmentDelayed motor milestones
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Short stature-microcephaly-heart defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Short stature-microcephaly-heart defect 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 OBSOLETE: Short stature-microcephaly-heart defect 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.Has this diagnosis been reclassified, and is there a more current name or category for my child's condition?,Would whole exome or whole genome sequencing help identify a more specific genetic cause?,How severe is my child's heart defect, and will surgery be needed?,What developmental therapies should we start, and how soon?,Should my child be evaluated for growth hormone therapy?,What is the long-term outlook for my child's heart health and development?,Are there any clinical trials or research studies we should consider?
Common questions about OBSOLETE: Short stature-microcephaly-heart defect syndrome
What is OBSOLETE: Short stature-microcephaly-heart defect syndrome?
Short stature-microcephaly-heart defect syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. This entry is now considered obsolete in Orphanet, meaning it may have been reclassified or merged with another condition as scientific understanding has advanced. The syndrome was originally characterized by three main features: short stature (being significantly shorter than expected for age and sex), microcephaly (a smaller-than-normal head size, which can be associated with differences in brain development), an
At what age does OBSOLETE: Short stature-microcephaly-heart defect syndrome typically begin?
Typical onset of OBSOLETE: Short stature-microcephaly-heart defect syndrome is neonatal. Age of onset can vary across affected individuals.