Living with Chondrodysplasia punctata, Toriello type
A rare bone condition present from birth, with spotted bone changes, short stature, eye differences, and sometimes heart or brain differences.
Understanding Chondrodysplasia punctata, Toriello type
Features include a flat face with a small nose, low-set ears, short fingertips bones, and deep palm creases. Developmental delay is also seen. Complex heart disease and differences in the brain, such as a partly missing corpus callosum, have been reported. GARD lists onset at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes these features:
- Spotted calcium at the ends of bones
- Short stature
- Eye gaps (colobomas)
- Flat face with small nose
- Developmental delay
- Heart or brain differences, in some
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 cause this condition but doesn't name a specific gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: toriello-higgins-miller 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 Chondrodysplasia punctata, Toriello type.
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