Living with Tel Hashomer camptodactyly syndrome
A rare condition with bent fingers, weak underdeveloped muscles, bone differences, and distinct facial features.
Understanding Tel Hashomer camptodactyly syndrome
Fingers are permanently bent (camptodactyly), and muscles are underdeveloped and weak. People also have bone differences, distinct facial features, and unusual fingerprint patterns. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Permanently bent fingers
- Underdeveloped, weak muscles
- Bone differences
- Distinct facial features
- Unusual fingerprint patterns
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
Changes in genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases; camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases 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 Tel Hashomer camptodactyly syndrome.
Explore research for Tel Hashomer camptodactyly syndrome
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