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|
|Abnormal eyebrow morphology||
Abnormality of the eyebrow
|Abnormal eyelash morphology||
Abnormality of the eyelashes
Eyelash abnormality[ more ]
|Abnormality of the nail||0001597|
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture[ more ]
Sparse hair since birth
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth[ more ]
|5%-29% of people have these symptoms|
|Abnormal oral mucosa morphology||
Abnormality of lining of mouth
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the respiratory system||0002086|
|Asymmetry of iris pigmentation||0200064|
Inflammation of eyelids
Clouding of the lens of the eye
Cloudy lens[ more ]
Abnormality of cognition
Mental impairment[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Inflammation of iris
|Multiple cafe-au-lait spots||0007565|
Eyeballs bulging out
Protruding eyes[ more ]
Loss of vision
Vision loss[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
Onset in first year of life
Onset in infancy[ more ]
Atypical nail growth
Poor nail formation
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.
While there is no recognized definitive treatment for monilethrix, oral acitretin and topical 2% minoxidil have shown good clinical and cosmetic results with continued use. The systemic administration of vitamins, retinoids, griseofulvin, oral contraceptives, steroids,
Avoiding trauma is perhaps the most effective method of managing monilethrix. This is because from birth, the hair of individuals with monilethrix tends to have an increased
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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 diagnosis includes pseudomonilethrix that presents with diffuse alopecia or alopecia limited to the occipital area. However, using trichogram analysis, pseudomoniletrix hair does not present with dystrophic constrictions but with flattened irregular beading.
Visit the Orphanet disease page for more information.
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
My daughter has monilethrix. Are there any clinical trials underway for this disorder? Any stem cell research? Is there is anything out there that might help, now or in the future?
I have monilethrix. My husband and I would like to start a family but we don't want to pass on the gene responsible for this condition. Is there anything that we can do to stop this from happening? See answer
What is known about monilethrix? I was told that there isn't a cure. Is there any research being done to discover a cure? What type of treatment is currently available? See answer