Living with Camptodactyly-tall stature-scoliosis-hearing loss syndrome
A rare genetic syndrome with bent fingers, tall height, scoliosis, and hearing loss.
Understanding Camptodactyly-tall stature-scoliosis-hearing loss syndrome
It has been described in around 30 people across seven generations of one family. It is noted in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Permanently bent fingers (camptodactyly)
- Tall stature
- Scoliosis
- Hearing loss
- Differences in lower limb joints
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.
- 3Consider genetic testing
Changes in FGFR3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the FGFR3 gene cause this condition. The change leads to a partial loss of function of a protein that helps control bone growth. It can be autosomal dominant or autosomal recessive.
Also known as: camptodactyly and tall stature with scoliosis and hearing loss syndrome; camptodactyly-tall stature-scoliosis-deafness syndrome; catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome; catshl 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 Camptodactyly-tall stature-scoliosis-hearing loss syndrome.
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