Living with Growth delay-hydrocephaly-lung hypoplasia syndrome
A rare developmental disorder described in 4 siblings, with slow fetal growth, fluid buildup in the brain, and underdeveloped lungs.
Understanding Growth delay-hydrocephaly-lung hypoplasia syndrome
It involves delayed growth before birth, hydrocephaly (fluid buildup in the brain), and underdeveloped lungs. Other features include a small jaw, intestinal malrotation, omphalocele, short lower limbs, bowed shin bones, and foot deformities. It begins during pregnancy.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Slow growth before birth
- Underdeveloped lungs
- Fluid buildup in the brain (hydrocephaly)
- Small lower jaw (micrognathia)
- Bowed long bones
- Omphalocele and intestinal malrotation
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 and lung and breathing 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); Lung and breathing specialists (pulmonologists)
- 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
Changes in genes cause this condition. GARD does not name the gene or describe how it is inherited.
Also known as: game friedman paradice syndrome; game-friedman-paradice syndrome; growth delay with hydrocephalus and lung hypoplasia syndrome; hydrocephalus with associated malformations
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 Growth delay-hydrocephaly-lung hypoplasia syndrome.
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