Living with Fryns syndrome
A condition affecting many parts of the body, often with a hole in the diaphragm, short fingertips and distinctive facial features, present from birth.
Understanding Fryns syndrome
Most people have a defect in the diaphragm, often a congenital diaphragmatic hernia, which can keep the lungs from developing properly. People often have underdeveloped fingertips and toes with small or missing nails, and distinctive facial features such as wide-set eyes, a broad flat nasal bridge, a large mouth, and a small lower jaw. It can also affect the brain, heart, digestive system, kidneys, and genitals. Those who live into childhood often have severe developmental delays.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hole in the diaphragm (diaphragmatic hernia)
- Underdeveloped lungs
- Short fingertips and small or missing nails
- Cleft palate or lip
- Intellectual disability
- Wide-set eyes and small lower jaw
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 and genetic specialists.
- 3Consider genetic testing
Changes in PIGN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDH International may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDH International
- 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 CDH International and other patient organizations
- 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 PIGN gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: diaphragmatic hernia-abnormal face-distal limb anomalies syndrome; diaphragmatic hernia, abnormal face and distal limb anomalies; diaphragmatic hernia, abnormal face, and distal limb anomalies; frns
Patient organizations
- CDH InternationalFryns syndrome · United States
- Children's Craniofacial AssociationFryns syndrome · United States
- FACES: The National Craniofacial AssociationFryns syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Fryns syndrome.
Explore research for Fryns syndrome
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- Recruiting studies from ClinicalTrials.gov
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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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