Overview
Richieri Costa-da Silva syndrome is an extremely rare genetic condition that affects multiple parts of the body, primarily involving the face, hands, and skeletal system. It was first described by Brazilian geneticists Richieri Costa and da Silva. The syndrome is characterized by distinctive facial features, abnormalities of the hands and feet, and intellectual disability. Affected individuals may have a flat or underdeveloped midface, a broad nasal bridge, cleft palate or other mouth abnormalities, and short stature. Hand and foot differences can include shortened fingers or toes and other skeletal malformations. 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 treatment remains limited. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms and may involve surgery for skeletal or facial abnormalities, speech therapy, physical therapy, and educational support for developmental delays. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Flat or underdeveloped midfaceBroad nasal bridgeCleft palate or high-arched palateShort statureShortened fingers or toesIntellectual disability or developmental delayAbnormal shape of the skullLow-set or abnormally shaped earsSkeletal abnormalities of the hands and feetSpeech delayWidely spaced eyesLimb abnormalities
Clinical phenotype terms (36)— 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 Richieri Costa-da Silva syndrome.
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Specialists
View all specialists →No specialists are currently listed for Richieri Costa-da Silva 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 Richieri Costa-da Silva 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.What specific features does my child have that led to this diagnosis?,Are there genetic tests that could confirm the diagnosis or identify the exact cause?,What surgeries or treatments might my child need, and when should they happen?,How will this condition affect my child's learning and development?,What therapies should we start right away?,Is there a risk that future children could also be affected?,Are there any research studies or registries we should consider joining?
Common questions about Richieri Costa-da Silva syndrome
What is Richieri Costa-da Silva syndrome?
Richieri Costa-da Silva syndrome is an extremely rare genetic condition that affects multiple parts of the body, primarily involving the face, hands, and skeletal system. It was first described by Brazilian geneticists Richieri Costa and da Silva. The syndrome is characterized by distinctive facial features, abnormalities of the hands and feet, and intellectual disability. Affected individuals may have a flat or underdeveloped midface, a broad nasal bridge, cleft palate or other mouth abnormalities, and short stature. Hand and foot differences can include shortened fingers or toes and other sk
How is Richieri Costa-da Silva syndrome inherited?
Richieri Costa-da Silva syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Richieri Costa-da Silva syndrome typically begin?
Typical onset of Richieri Costa-da Silva syndrome is neonatal. Age of onset can vary across affected individuals.