Living with Ichthyosis-oral and digital anomalies syndrome
A rare condition with scaly skin, a small mouth, and differences in the fingers.
Understanding Ichthyosis-oral and digital anomalies syndrome
GARD says it has been described in two siblings whose parents were first cousins. Signs may begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Scaly skin (ichthyosis)
- Small mouth with a thin upper lip
- Lower lip with a groove in the middle
- Tapered fingers
- No creases at the end of the fingers
- Wide space between second and third fingers
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 skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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
GARD says changes in genes cause this condition. It appears to be inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: clayton smith-donnai syndrome; oral and digital anomalies with ichthyosis
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis-oral and digital anomalies syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis-oral and digital anomalies syndrome.
Explore research for Ichthyosis-oral and digital anomalies syndrome
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