Living with Chondrodysplasia punctata, MT type
A rare bone growth condition present from before birth, with spotted bone changes on X-ray and severe short stature.
Understanding Chondrodysplasia punctata, MT type
Short hand bones and shin bones, shortened arms and legs, and a flat midface and nose are seen. People do not have cataracts or skin differences. Fast breathing in newborns, fluid buildup in the brain (hydrocephalus), and mild developmental delay have rarely been reported. GARD lists onset during pregnancy and at birth.
Signs & symptoms
GARD lists these features, but says it doesn't have enough information on how common they are:
- Short fourth bone in the hand
- Spotted calcium on X-ray (calcific stippling)
- Cleft in the back bones (coronal cleft vertebrae)
- Flat nose
- Severe short stature
- Shortened arms and legs
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 dominant, so one changed copy of a gene can be enough.
Also known as: chondrodysplasia punctata, tibia-metacarpal type; chondrodysplasia punctata, tibial-metacarpal type
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, MT type.
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