Living with Prata-Liberal-Goncalves syndrome
A rare condition present from birth with a curved spine, short fingers and toes, and fused wrist bones.
Understanding Prata-Liberal-Goncalves syndrome
It features a curved spine (scoliosis), unusually short fingers and toes (brachydactyly), a mild spine closure difference called spina bifida occulta and fused wrist bones. It is present from birth.
Signs & symptoms
GARD lists these:
- Curved spine (scoliosis)
- Short fingers and toes
- Spina bifida occulta
- Spine bone segmentation differences
- Fused wrist bones
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 National Scoliosis Foundation
- 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 the genetic cause is unknown, but it appears to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: acrodysplasia scoliosis; brachydactyly-scoliosis-carpal fusion syndrome; brachydactyly, scoliosis, carpal fusion syndrome; brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis; prata liberal goncalves syndrome
Patient organizations
- National Scoliosis FoundationPrata-Liberal-Goncalves syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Prata-Liberal-Goncalves syndrome.
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