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 | ||
Elevated red |
0030270 | |
Pure red cell aplasia | 0012410 | |
30%-79% of people have these symptoms | ||
Erythroid hypoplasia | 0012133 | |
Increased mean corpuscular volume | 0005518 | |
Lethargy | 0001254 | |
Macrocytic dyserythropoietic |
0005532 | |
Pallor | 0000980 | |
Persistence of hemoglobin F | 0011904 | |
Reticulocytopenia | 0001896 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
5%-29% of people have these symptoms | ||
Abnormality of the thenar eminence | 0001227 | |
Absent thumb |
Absent thumbs
|
0009777 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
0410030 | ||
Cleft soft palate | 0000185 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hypospadias | 0000047 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
Myelodysplasia | 0002863 | |
Neurodevelopmental delay | 0012758 | |
Normochromic anemia | 0001895 | |
Partial |
Partial duplication of the thumb bones
|
0009944 |
Radial artery aplasia | 0020118 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
Sprengel anomaly |
High shoulder blade
|
0000912 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Webbed neck |
Neck webbing
|
0000465 |
1%-4% of people have these symptoms | ||
Acute myeloid leukemia | 0004808 | |
Adenocarcinoma of the colon | 0040276 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
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 |
Developmental |
Clouding of the lens of the eye at birth
|
0000519 |
Developmental |
0001087 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malignant genitourinary tract |
0006758 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
Nonimmune hydrops fetalis | 0001790 | |
Osteosarcoma |
Bone cell cancer
|
0002669 |
Drooping upper eyelid
|
0000508 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Low platelet count
|
0001873 | |
Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
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
|
---|
The differential diagnosis should include transient erythroblastopenia (see this term), chronic parvovirus B19 infection, and other congenital anemias.
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.
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
Other than bone marrow transplantation is there any other remedy for Diamond-Blackfan anemia? See answer
What is the chance that a sibling of a child with Diamond-Blackfan anemia will also have the condition in a family with no prior history of Diamond-Blackfan anemia? See answer