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 | ||
Malar rash | 0025300 | |
Poikiloderma | 0001029 | |
30%-79% of people have these symptoms | ||
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ]
|
0008066 |
Infertility | 0000789 | |
Nail dystrophy |
Poor nail formation
|
0008404 |
Palmar hyperkeratosis | 0010765 | |
Plantar hyperkeratosis | 0007556 | |
Reticular hyperpigmentation | 0007588 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Sparse eyebrow |
Sparse eyebrows
|
0045075 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
5%-29% of people have these symptoms | ||
Abnormal trabecular bone morphology | 0100671 | |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ]
|
0006498 |
Aplasia/Hypoplasia of the radius | 0006501 | |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
Broad ulna | 0003993 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Delayed eruption of teeth |
Delayed teeth eruption
Delayed eruption
Late tooth eruption
Late eruption of teeth
Eruption, delayed
Delayed tooth eruption
[ more ]
|
0000684 |
Diarrhea |
Watery stool
|
0002014 |
Facial edema |
Facial puffiness
Facial swelling
[ more ]
|
0000282 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Hypoplasia of teeth | 0000685 | |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
|
0002659 |
Juvenile |
0001118 | |
Metaphyseal striations | 0031367 | |
Microdontia |
Decreased width of tooth
|
0000691 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Osteopenia | 0000938 | |
Selective tooth agenesis | 0001592 | |
Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
Small nail |
Small nails
|
0001792 |
Telangiectasia of the skin | 0100585 | |
Vomiting |
Throwing up
|
0002013 |
1%-4% of people have these symptoms | ||
Agenesis of permanent teeth |
Failure of development of permanent teeth
Missing teeth
[ more ]
|
0006349 |
Alopecia totalis | 0007418 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Aplastic anemia | 0001915 | |
Basal |
0002671 | |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Leukemia | 0001909 | |
0002861 | ||
Myelodysplasia | 0002863 | |
Nasogastric tube feeding in infancy | 0011470 | |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
Osteosarcoma |
Bone cell cancer
|
0002669 |
Porokeratosis | 0200044 | |
Sparse hair | 0008070 | |
Squamous cell carcinoma | 0002860 | |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia |
Hair loss
|
0001596 |
Annular pancreas | 0001734 | |
Anteriorly placed anus | 0001545 | |
0000007 | ||
Dislocated hip since birth
|
0001374 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Forearm reduction defects | 0006368 | |
Frontal bossing | 0002007 | |
0000501 | ||
Decreased activity of gonads
|
0000135 | |
Kyphoscoliosis | 0002751 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
0000939 | ||
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short palm | 0004279 | |
Small hand |
Disproportionately small hands
|
0200055 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Telangiectasia | 0001009 | |
Zonular cataract | 0010920 |
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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The differential diagnosis should include other causes of childhood poikiloderma and other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, xeroderma pigmentosum, Kindler syndrome, poikiloderma with neutropenia, and dyskeratosis congenita; see these terms), and the allelic disorders, RAPADILINO syndrome (in which radial ray defects are a constant feature, poikiloderma is absent and the risk of malignancy is lower) and Baller-Gerold syndrome (which is associated with craniosynostosis; 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.
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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