Living with Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
A rare syndrome, described in one family, with stiff hand joints and hearing loss from inner ear causes.
Understanding Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
It has been described in only one family, and it passed from fathers to sons. The hearing loss is sensorineural, meaning it comes from the inner ear or hearing nerve. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (sensorineural)
- Joint stiffness
- Long, slender fingers (arachnodactyly)
- Short stature
- Wasting (cachexia)
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, ear, nose, and throat 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); Ear, nose, and throat specialists (otolaryngologists); 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 (also called variants) cause this syndrome. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: arthrogryposis and sensorineural deafness; arthrogryposis-like hand anomaly and sensorineural deafness syndrome; arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome; arthrogryposis, distal, type 6; da6; distal arthrogryposis type 6
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Arthrogryposis-like hand anomaly-sensorineural deafness syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis-like hand anomaly-sensorineural deafness syndrome.
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