Living with Thin ribs-tubular bones-dysmorphism syndrome
An extremely rare bone condition present at birth with thin ribs and long bones and certain facial features.
Understanding Thin ribs-tubular bones-dysmorphism syndrome
People also have a high-arched palate and distinctive facial features, including a prominent forehead and low-set ears that rotate toward the back. Boys may have undescended testes on both sides. It is noticed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thin ribs
- Thin, slender long bones
- High-arched roof of the mouth
- Prominent forehead (frontal bossing)
- Ears rotated toward the back of the head
- Larger than usual head (macrocephaly)
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 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); 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 (variants) cause this condition, but it doesn't name a specific gene.
Also known as: sharma kapoor ramji syndrome; sharma-kapoor-ramji syndrome; thin ribs, tubular bones, dysmorphism 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 Thin ribs-tubular bones-dysmorphism syndrome.
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