Living with Lethal hydranencephaly-diaphragmatic hernia syndrome
A rare inherited condition with major brain differences and a hole in the diaphragm, noticed in newborns.
Understanding Lethal hydranencephaly-diaphragmatic hernia syndrome
It is marked by hydranencephaly (the brain's main parts are replaced by fluid) and diaphragmatic hernia (a gap in the muscle between chest and belly). Babies may also have a large head, a wide soft spot, a hollow belly, and low muscle tone. Heart differences, extra amniotic fluid, and high lung blood pressure have also been linked to it.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Hydranencephaly (brain replaced by fluid)
- Diaphragmatic hernia
- Large head (macrocephaly)
- Wide-open soft spot (anterior fontanel)
- Low muscle tone (hypotonia)
- Heart defects
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 brain and nervous system specialists, digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in PLAT 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
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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
It is caused by changes in the PLAT gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lethal hydranencephaly, diaphragmatic hernia 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
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Perspectives from people navigating life with Lethal hydranencephaly-diaphragmatic hernia syndrome.
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