Overview
Teebi-Shaltout syndrome is an extremely rare genetic condition that primarily affects the skin, hair, nails, and facial features. It was first described by doctors Teebi and Shaltout, and it is sometimes grouped under ectodermal dysplasia-like conditions. The syndrome is characterized by distinctive facial features, abnormalities of the skin (such as thickened or unusually textured skin), sparse or abnormal hair, and nail changes. Some individuals may also have mild developmental differences or other physical findings. Because this condition is so rare, with only a handful of cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to care is still limited. The ICD-10 classification places it under Q82.4, which covers hereditary skin conditions involving ectodermal structures. There is currently no cure for Teebi-Shaltout syndrome. Treatment focuses on managing individual symptoms. For example, skin care routines may help with skin abnormalities, and dental or hair-related issues can be addressed by the appropriate specialists. Regular follow-up with a clinical geneticist and a dermatologist is recommended to monitor for any new or changing symptoms over time. Early intervention services may be helpful if developmental concerns arise.
Key symptoms:
Unusual facial featuresSparse or thin hairAbnormal or brittle nailsThickened or rough skinWidely spaced eyesFlat or broad noseSkin that may appear dry or scalyPossible mild developmental delayDental abnormalitiesShort stature
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 Teebi-Shaltout syndrome.
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Specialists
View all specialists →No specialists are currently listed for Teebi-Shaltout 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 Teebi-Shaltout syndrome.
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Caregiver Resources
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Mental Health Support
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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 symptoms should I watch for as my child grows?,Is genetic testing available that could confirm the diagnosis?,Are there any skin care products or routines you recommend?,Should my child be evaluated for developmental delays?,Are there other family members who should be tested?,How often should we schedule follow-up appointments?,Are there any research studies or registries we can participate in?
Common questions about Teebi-Shaltout syndrome
What is Teebi-Shaltout syndrome?
Teebi-Shaltout syndrome is an extremely rare genetic condition that primarily affects the skin, hair, nails, and facial features. It was first described by doctors Teebi and Shaltout, and it is sometimes grouped under ectodermal dysplasia-like conditions. The syndrome is characterized by distinctive facial features, abnormalities of the skin (such as thickened or unusually textured skin), sparse or abnormal hair, and nail changes. Some individuals may also have mild developmental differences or other physical findings. Because this condition is so rare, with only a handful of cases reported i
How is Teebi-Shaltout syndrome inherited?
Teebi-Shaltout syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Teebi-Shaltout syndrome typically begin?
Typical onset of Teebi-Shaltout syndrome is neonatal. Age of onset can vary across affected individuals.