This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the nail||0001597|
|Aplasia/Hypoplasia of the eyebrow||
Absence of eyebrow
Lack of eyebrow
Missing eyebrow[ more ]
Eyelid turned out
Sparse hair since birth
|Lack of skin elasticity||0100679|
Skin itching[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the helix||0011039|
|Everted lower lip vermilion||
Drooping lower lip
Outward turned lower lip[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Chronic otitis media||
Chronic infections of the middle ear
Abnormality of cognition
Mental impairment[ more ]
Death of body tissue due to lack of blood flow or infection
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Renal failure in adulthood[ more ]
Infection in blood stream
Decreased body height
Small stature[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma (see these terms). The disease is transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have a daughter with this skin condition. I would like to know if there is a cure for it yet, and what sort of treatments are best. I heard about the Garra rufa "skin eating fish" being used in some places to treat certain skin disorders; will using this fish work for this type of skin disorder? See answer