Living with Edinburgh malformation syndrome
A very rare condition present from birth with an unusual facial appearance, extra fluid in the brain, delayed development, and feeding problems.
Understanding Edinburgh malformation syndrome
Features include an unusual facial appearance, true or apparent hydrocephalus (extra fluid in the brain), delayed motor and thinking development, and poor weight gain with feeding difficulties, vomiting, and chest infections. Other features may include a carp-shaped mouth, hairiness of the forehead, and newborn jaundice. GARD notes there have been no new descriptions in the medical literature since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unusual facial appearance
- Poor weight gain (failure to thrive)
- Intellectual disability
- Small lower jaw (micrognathia)
- Extra hair on the forehead and body
- Breathing difficulty
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 a person's genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: typus edinburgensis
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 Edinburgh malformation syndrome.
Explore research for Edinburgh malformation syndrome
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- Recruiting studies from ClinicalTrials.gov
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- 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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