Living with Cono-spondylar dysplasia
A rare genetic bone condition with a rounded upper back, short fingers, and developmental delay from early life.
Understanding Cono-spondylar dysplasia
It also causes cone-shaped ends on the finger bones. Other features can include developmental delay, intellectual disability, low muscle tone, and seizures. Some people have mild facial differences, like a long, thin, or square face and wide-set eyes. X-rays can show small hip bones and gaps in the front of the spine bones. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe curve of the spine (kyphosis)
- Short fingers or toes (brachydactyly)
- Severe developmental delay
- Low muscle tone (hypotonia)
- Seizures
- Poor weight gain (failure to thrive)
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. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome; short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial 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 Cono-spondylar dysplasia.
Explore research for Cono-spondylar dysplasia
Explore actively recruiting Cono-spondylar dysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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