Living with Spondyloepiphyseal dysplasia, Cantu type
An extremely rare bone condition with short stature, distinct facial features, and short hands and feet.
Understanding Spondyloepiphyseal dysplasia, Cantu type
People have short stature and short hands and feet. Facial features include narrow eye openings, upward-slanting eyes, thick eyebrows and eyelashes, and a coarse voice. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short hands and feet
- Coarse voice
- Thick eyebrows and curly eyelashes
- Funnel chest (pectus excavatum)
- Delayed bone maturity
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
Changes in genes (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: fantasy island syndrome; sed-bds; spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome; spondyloepiphyseal dysplasia cantu type; spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome; tatoo dysplasia
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 Spondyloepiphyseal dysplasia, Cantu type.
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