Living with Arthrogryposis-hyperkeratosis syndrome, lethal form
A very rare condition present from birth with stiff joints and thickened skin, reported in infants.
Understanding Arthrogryposis-hyperkeratosis syndrome, lethal form
Joints of the large joints, fingers, and toes are fixed in a bent position (contractures), and the skin is thickened (hyperkeratosis). Babies are born early and have a reduced or absent sensory response. GARD notes there have been no further descriptions in the medical literature since 1993.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but its summary describes these features:
- Bent, stiff joints (contractures)
- Thickened skin (hyperkeratosis)
- Born early (prematurity)
- Reduced or absent sensory response
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 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 (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: arthrogryposis hyperkeratosis syndrome lethal form; arthrogryposis with hyperkeratosis; johnston aarons schelley syndrome; johnston-aarons-schelley 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 Arthrogryposis-hyperkeratosis syndrome, lethal form.
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