Living with Emery-Nelson syndrome
A very rare condition present at birth with distinctive facial features, short height, and hand and foot differences with tight joints.
Understanding Emery-Nelson syndrome
Facial features include a high forehead, a flat midface, and a long philtrum. People have short height and hand and foot differences such as small hands and feet, tight finger and thumb joints, and clawed toes. Other features include low muscle tone in newborns, thin shiny skin on the hands and feet, ridged nails, and dry coarse hair. Intellectual disability may occur. GARD notes there have been no new descriptions in the medical literature since 1970.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Distinctive facial features
- Low muscle tone in newborns
- Tight joints in the thumbs and fingers
- Short fingers or toes
- Short height
- Bent fingers (camptodactyly)
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 a person's genes cause this condition. It doesn't list a specific gene.
Also known as: hand and foot deformity with flat facies; hand and foot deformity-flat facies 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 Emery-Nelson syndrome.
Explore research for Emery-Nelson syndrome
Explore actively recruiting Emery-Nelson syndrome studies with HealthSpark.
Find actively recruiting studies for Emery-Nelson syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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