Living with Richieri Costa-da Silva syndrome
A rare genetic condition starting in childhood with muscle stiffness and overgrowth, short height, bone differences, and learning disability.
Understanding Richieri Costa-da Silva syndrome
Muscles may be larger than usual, and walking gets harder over time. People are short and have bone differences such as a pigeon chest and curving of the spine. Intellectual disability is mild to moderate. There are no facial differences or joint limits. GARD says there have been no further descriptions in the literature since 1984.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia), such as in the grip
- Enlarged muscles (muscle hypertrophy)
- Short height
- Curved spine (kyphoscoliosis)
- Pigeon chest (pectus carinatum)
- Painful muscle spasms and falls
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but does not name a gene or list an inheritance pattern.
Also known as: myotonia-intellectual disability-skeletal anomalies syndrome; myotonia, intellectual disability, skeletal anomalies syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Richieri Costa-da Silva syndrome.
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