Living with Night blindness-skeletal anomalies-dysmorphism syndrome
A rare genetic condition with night blindness, joint and shoulder differences, and distinct facial features.
Understanding Night blindness-skeletal anomalies-dysmorphism syndrome
The skeletal differences include sloping shoulders and very flexible joints. Facial features include differences around the eyes, flat cheekbones, and a small lower jaw. GARD lists childhood as the usual time of onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness (nyctalopia)
- Nearsightedness (myopia)
- Abnormal retina test results and retina pigment changes
- Very flexible joints (double-jointed)
- Down-sloping shoulders
- Drooping upper eyelids (ptosis)
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: hunter thompson reed syndrome; hunter-thompson-reed syndrome; night blindness, skeletal anomalies, dysmorphism 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 Night blindness-skeletal anomalies-dysmorphism syndrome.
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