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 dentition||
Dental abnormality[ more ]
Abnormality of cognition
Mental impairment[ more ]
Small dilated blood vessels near membrane covering front of eye and eyelids
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Failure to thrive||
Weight faltering[ more ]
Tiredness[ more ]
Decreased activity of gonads
Mental retardation, progressive
Progressive mental retardation[ more ]
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Undescended testis[ more ]
|Hypopigmented skin patches||
Patchy loss of skin color
|Sensorineural hearing impairment||0000407|
Squint eyes[ more ]
|5%-29% of people have these symptoms|
|Abnormality of extrapyramidal motor function||0002071|
High urine amino acid levels
Increased levels of animo acids in urine[ more ]
Adhesion of eyelids
Eyelids stuck together[ more ]
Inflammation of eyelids
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Excessive bone growth of the skull and face
|Decreased testicular size||
Small testis[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Eyelid turned out
Eyelid turned in
|Flat nasal alae||0010649|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Opacification of the corneal stroma||0007759|
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
|Reduced tendon reflexes||0001315|
Decreased body height
Small stature[ more ]
Involuntary muscle stiffness, contraction, or spasm
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 diagnoses include trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome (COFS), UV-sensitive syndrome, erythropoietic protoporphyria, and Rothmund-Thomson syndrome (see these terms).
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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