Living with Feingold syndrome type 1
A rare genetic condition present at birth with differences in the fingers and toes, small head size, and sometimes digestive blockages.
Understanding Feingold syndrome type 1
Other features include a small head size (microcephaly), a small jaw, and narrower openings of the eyelids. Some people have a blockage in part of the digestive system (gastrointestinal atresia). Mild to moderate learning disabilities may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused toes (syndactyly)
- Short thumb and short finger bones
- Fifth finger curving inward
- Small head size (microcephaly)
- Small jaw and short eyelid openings
- Digestive blockage (esophageal atresia)
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MYCN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); 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 Children's Craniofacial Association
- 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
Changes in the MYCN gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: brunner-winter syndrome type 1; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1; feingold syndrome caused by mutation in mycn; fglds1; fs1
Patient organizations
- Children's Craniofacial AssociationFeingold syndrome type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Feingold syndrome type 1.
Explore research for Feingold syndrome type 1
Explore actively recruiting Feingold syndrome type 1 studies with HealthSpark.
Find actively recruiting studies for Feingold syndrome type 1 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Feingold syndrome type 1 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Feingold syndrome type 1
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Feingold syndrome type 1 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.