Overview
Short stature-craniofacial anomalies-genital hypoplasia syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:2994). The syndrome is characterized by three main features: significantly shorter-than-expected height (short stature), unusual facial features (craniofacial anomalies), and underdevelopment of the genital organs (genital hypoplasia). Craniofacial features may include an unusually shaped skull, a broad or flat nasal bridge, widely spaced eyes, and other distinctive facial characteristics. Genital hypoplasia means that the reproductive organs are smaller or less developed than expected for the person's age. Additional features may include skeletal abnormalities and developmental delays in some cases. Because this condition is so rare, the medical understanding of it is limited. There is currently no cure, and treatment focuses on managing individual symptoms. A team of specialists typically works together to address the various aspects of the syndrome, including growth support, hormonal therapy when needed, and surgical correction of certain physical features. Early diagnosis and coordinated care can help improve quality of life for affected individuals.
Also known as:
Key symptoms:
Short stature or significantly reduced heightUnusual facial featuresUnderdeveloped genitalsBroad or flat nasal bridgeWidely spaced eyesAbnormal skull shapeSkeletal abnormalitiesLow-set or unusually shaped earsSmall jawDelayed pubertyPossible developmental delays
Clinical phenotype terms (28)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Short stature-craniofacial anomalies-genital hypoplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short stature-craniofacial anomalies-genital hypoplasia 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 Short stature-craniofacial anomalies-genital hypoplasia syndrome.
Community
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Caregiver Resources
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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 specific tests should be done to confirm the diagnosis?,Would growth hormone therapy be appropriate for my child?,When should we start monitoring for puberty and consider hormone treatment?,Are there any surgical procedures that might help with the craniofacial features?,Should we pursue genetic testing to look for a specific cause?,What developmental milestones should we watch for?,Are there other specialists we should be seeing regularly?
Common questions about Short stature-craniofacial anomalies-genital hypoplasia syndrome
What is Short stature-craniofacial anomalies-genital hypoplasia syndrome?
Short stature-craniofacial anomalies-genital hypoplasia syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:2994). The syndrome is characterized by three main features: significantly shorter-than-expected height (short stature), unusual facial features (craniofacial anomalies), and underdevelopment of the genital organs (genital hypoplasia). Craniofacial features may include an unusually shaped skull, a broad or flat nasal bridge, widely spaced eyes, and other distinctive facial characteristics. Geni
At what age does Short stature-craniofacial anomalies-genital hypoplasia syndrome typically begin?
Typical onset of Short stature-craniofacial anomalies-genital hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.