Living with Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
A rare inherited condition with a weak immune system, short stature, and a net-like skin pattern, starting in infancy.
Understanding Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
It is seen in newborns and infants. People have distinct facial features, repeated infections, slow growth, and a lacy red or purple skin pattern (livedo) on the face and limbs. Growth hormone levels are normal. GARD says people do not have a higher chance of cancer.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakened immune system
- Repeated chest infections
- Repeated colds
- Short stature
- Lacy red skin pattern (livedo)
- Tiny blood vessels on the cheeks
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 allergy and immune system specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in POLE 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
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation 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 POLE gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: facial dysmorphism, immunodeficiency, livedo, and short stature; facial dysmorphism, immunodeficiency, livedo, short stature syndrome; fils (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome; fils syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Facial dysmorphism-immunodeficiency-livedo-short stature syndrome.
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