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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
Corneal neovascularization |
New blood vessel formation in cornea
|
0011496 |
Erythema | 0010783 | |
Generalized hyperkeratosis | 0005595 | |
Ichthyosis | 0008064 | |
Keratitis |
Corneal inflammation
|
0000491 |
Macule |
Flat, discolored area of skin
|
0012733 |
Oral leukoplakia |
Oral white patch
|
0002745 |
Osteolysis |
Breakdown of bone
|
0002797 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Recurrent bacterial skin infections | 0005406 | |
Sensorineural hearing impairment | 0000407 | |
Skin ulcer |
Open skin sore
|
0200042 |
Sparse hair | 0008070 | |
30%-79% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
Dystrophic toenail |
Poor toenail formation
|
0001810 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Furrowed tongue |
Grooved tongue
|
0000221 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
5%-29% of people have these symptoms | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Joint inflammation
|
0001369 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
Reduced tendon reflexes | 0001315 | |
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Squamous |
0006739 | |
Urticaria |
Hives
|
0001025 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of corneal stroma | 0011492 | |
0000006 | ||
Blindness | 0000618 | |
Corneal scarring | 0000559 | |
Corneal ulceration | 0012804 | |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Hyperkeratosis | 0000962 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Knee flexion contracture | 0006380 | |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Pes cavus |
High-arched foot
|
0001761 |
Recurrent corneal erosions |
Recurrent breakdown of clear protective layer of eye
|
0000495 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
Squamous cell carcinoma | 0002860 | |
Trichiasis |
Ingrown eyelashes
|
0001128 |
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.
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.
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 am a special education teacher. My new student is 5-years-old and is very impacted by this condition. Is his intelligence presumed to be typical? Also are his fungal infections contagious to other students and staff? See answer