Living with Autosomal recessive keratitis-ichthyosis-deafness syndrome
A rare inherited condition that affects the skin, eyes, and hearing from birth.
Understanding Autosomal recessive keratitis-ichthyosis-deafness syndrome
Babies are born with red, scaly skin and severe hearing loss from inner ear problems. Children often have trouble gaining weight and growing, and they may have developmental delays. Some adults develop scarring on the clear front of the eye (cornea), which can lead to vision loss. Some people have low levels of copper and a blood protein called ceruloplasmin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, scaly skin (ichthyosis)
- Hearing loss from the inner ear
- Global developmental delay
- Thick skin on palms and soles
- Sparse hair or hair loss
- Poor weight gain (failure to thrive)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
- 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 autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: autosomal recessive kid (keratitis, ichthyosis, deafness) syndrome; desmons syndrome; ichthyosiform erythroderma, corneal involvement, and hearing loss; kid syndrome, autosomal recessive
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive keratitis-ichthyosis-deafness syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive keratitis-ichthyosis-deafness syndrome.
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