Overview
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: abnormal development of the skull and face (craniofacial dysplasia), shorter-than-expected height (short stature), problems with structures that develop from the outer layer of the embryo such as skin, hair, teeth, and nails (ectodermal anomalies), and difficulties with thinking and learning (intellectual disability). People with this syndrome typically show distinctive facial features that may include an unusually shaped skull, widely spaced eyes, a flat or underdeveloped midface, and abnormalities of the jaw. The ectodermal problems can lead to thin or sparse hair, abnormal or missing teeth, dry skin, and nail changes. Growth is often slower than expected from early childhood, resulting in short stature. Intellectual disability can range from mild to moderate, affecting learning, speech development, and daily functioning. Because this condition is so rare, there is currently no specific cure or targeted treatment. Management focuses on addressing individual symptoms through a team of specialists. This may include growth monitoring, dental care, skin treatments, educational support, and therapies to help with speech and development. Early intervention and supportive care can help improve quality of life for affected individuals.
Also known as:
Key symptoms:
Abnormal skull and face shapeShort stature or slow growthThin or sparse hairAbnormal or missing teethNail abnormalitiesDry or unusual skinIntellectual disabilityDelayed speech and languageLearning difficultiesWidely spaced eyesFlat or underdeveloped midfaceDelayed developmental milestones
Clinical phenotype terms (40)— hover any for plain English
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 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability 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 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome.
Community
No community posts yet. Be the first to share your experience with Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome.
Start the conversation →Latest news about Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
No recent news articles for Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome.
Follow this condition to be notified when news becomes available.
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 testing has been done, and are there additional tests that could help identify the exact cause?,What specialists should my child see, and how often?,Is growth hormone therapy appropriate for my child's short stature?,What educational and developmental support services should we pursue?,Are there any clinical trials or research studies we could participate in?,What should we watch for as warning signs of complications?,Can you help us connect with other families affected by similar conditions?
Common questions about Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
What is Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome?
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: abnormal development of the skull and face (craniofacial dysplasia), shorter-than-expected height (short stature), problems with structures that develop from the outer layer of the embryo such as skin, hair, teeth, and nails (ectodermal anomalies), and difficulties with thinking and learning (intellectual disability). People with this syndrome typically show distinctive facial features that m
How is Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome inherited?
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome typically begin?
Typical onset of Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.