Overview
Short stature-heart defect-craniofacial anomalies syndrome is an extremely rare condition that has been described in the medical literature but is now classified as 'obsolete' in the Orphanet rare disease database. This means that the condition may have been reclassified, merged with another diagnosis, or is no longer considered a distinct syndrome based on updated medical understanding. When it was described, the syndrome involved a combination of short stature (being significantly shorter than expected for age and sex), congenital heart defects (heart problems present at birth), and craniofacial anomalies (unusual features of the skull and face). These features can overlap with many other genetic syndromes, which is likely why the classification was retired. Because this diagnosis is obsolete, patients or families who were previously given this diagnosis should work with a clinical geneticist to determine whether a more current and specific diagnosis applies. Advances in genetic testing, particularly whole exome and whole genome sequencing, have allowed doctors to better distinguish between syndromes that share overlapping features. A more precise diagnosis can help guide treatment, predict outcomes, and connect families with appropriate support resources. Treatment for the individual features — such as cardiac surgery for heart defects, growth hormone evaluation for short stature, and craniofacial surgery if needed — would be managed by the relevant specialists.
Also known as:
Key symptoms:
Short stature or growth delayCongenital heart defectsUnusual facial featuresAbnormal skull shapeDevelopmental delay in some casesLow birth weightFeeding difficulties in infancy
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Short stature-heart defect-craniofacial 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 OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome.
Community
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Start the conversation →Latest news about OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
1 articlesCaregiver Resources
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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.Since this diagnosis is now obsolete, what is the most current diagnosis that fits my child's symptoms?,Should we pursue updated genetic testing such as whole exome sequencing?,How severe is the heart defect, and will surgery be needed?,Is my child a candidate for growth hormone therapy?,What developmental support services should we set up?,Is this condition inherited, and should other family members be tested?,Are there any clinical trials or research studies we should know about?
Common questions about OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
What is OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome?
Short stature-heart defect-craniofacial anomalies syndrome is an extremely rare condition that has been described in the medical literature but is now classified as 'obsolete' in the Orphanet rare disease database. This means that the condition may have been reclassified, merged with another diagnosis, or is no longer considered a distinct syndrome based on updated medical understanding. When it was described, the syndrome involved a combination of short stature (being significantly shorter than expected for age and sex), congenital heart defects (heart problems present at birth), and craniofa
At what age does OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome typically begin?
Typical onset of OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome is neonatal. Age of onset can vary across affected individuals.