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 facial shape |
Unusual facial appearance
|
0001999 |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Abnormality of the middle ear | 0000370 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Crusting erythematous dermatitis | 0007473 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Dry skin | 0000958 | |
Erythema | 0010783 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Papule | 0200034 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Skin ulcer |
Open skin sore
|
0200042 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Abnormality of retinal pigmentation | 0007703 | |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Bilateral single transverse palmar creases | 0007598 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Genu valgum |
Knock knees
|
0002857 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
White forelock |
White part of hair above forehead
|
0002211 |
5%-29% of people have these symptoms | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Recurrent cystitis |
Recurrent bladder infections
|
0012786 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Asthma | 0002099 | |
0000007 | ||
Chronic lung disease | 0006528 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Diffuse telangiectasia | 0007489 | |
Global |
0001263 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Petechiae | 0000967 | |
Prolonged neonatal |
Prolonged yellowing of skin in newborn
|
0006579 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Drooping upper eyelid
|
0000508 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
Recurrent pneumonia | 0006532 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Systemic lupus erythematosus | 0002725 | |
Thrombocytopenia |
Low platelet count
|
0001873 |
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
|
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Differential diagnoses include Werner syndrome, beta-thalassemia, vasculitis (see these terms), autosomal dominant and recessive forms of hyper-IgE syndrome, sickle cell disease, pressure ulcers, and arterial and venous insufficiency.
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.
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I have prolidase deficiency and would like to receive as much information as possible as well as contact other sufferers. See answer