Living with Digitotalar dysmorphism
A condition present from birth with stiff, bent fingers and toes and a small mouth.
Understanding Digitotalar dysmorphism
The contractures affect the far ends of the hands and feet. There is no primary nerve or muscle disease affecting the limbs. The face is affected only by a small mouth and trouble opening it wide. No other differences are reported. GARD lists onset during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fingers that bend toward the little finger
- Thumbs turned inward
- Joint stiffness
- Overlapping fingers
- Fingers that stay bent (camptodactyly)
- Clubfoot (talipes)
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.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
- 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 Arthrogryposis Multiplex Congenita Support Inc.
- 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 dominant, so a changed copy of the gene from one parent can be enough.
Also known as: arthrogryposis multiplex congenita distal type 1; da1; distal arthrogryposis type 1
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Digitotalar dysmorphism · United States
You are more than your diagnosis
Perspectives from people navigating life with Digitotalar dysmorphism.
Explore research for Digitotalar dysmorphism
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- Eligibility is confirmed by the study team
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