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 | ||
Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
30%-79% of people have these symptoms | ||
Chronic neutropenia | 0410252 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Hypoamylasemia | 0410289 | |
Impaired neutrophil chemotaxis | 0040238 | |
Increased mean corpuscular volume | 0005518 | |
Increased serum bile acid concentration | 0012202 | |
Low levels of vitamin A |
Vitamin A deficiency
|
0004905 |
Low levels of vitamin D |
Deficient in vitamin D
Vitamin D deficiency
[ more ]
|
0100512 |
Low levels of vitamin E |
Vitamin E deficiency
|
0100513 |
Low levels of vitamin K | 0011892 | |
Macrocytic anemia | 0001972 | |
Malnutrition | 0004395 | |
Myelodysplasia | 0002863 | |
Normocytic anemia | 0001897 | |
Pancreatic hypoplasia |
Underdeveloped pancreas
|
0002594 |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Steatorrhea |
Fat in feces
|
0002570 |
Thrombocytopenia |
Low platelet count
|
0001873 |
Transient neutropenia | 0410255 | |
5%-29% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ]
|
0001367 |
Abnormality of the thoracic cavity | 0045027 | |
Acute myeloid leukemia | 0004808 | |
Aplastic anemia | 0001915 | |
Autistic behavior | 0000729 | |
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Deformed rib cage | 0000886 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
Metaphyseal chondrodysplasia | 0005871 | |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Osteopenia | 0000938 | |
Pneumonia | 0002090 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|
0002718 |
Recurrent viral infections | 0004429 | |
Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
Sinusitis |
Sinus inflammation
|
0000246 |
Skin rash | 0000988 | |
Vertebral compression fractures |
Compression fracture
|
0002953 |
1%-4% of people have these symptoms | ||
Abnormality of finger |
Abnormalities of the fingers
|
0001167 |
Abnormality of the outer ear |
Abnormality of the external ear
Ear anomalies
External ear malformations
Outer ear abnormality
[ more ]
|
0000356 |
Anterior rib cupping | 0000907 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
0000819 | ||
Eczema | 0000964 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Growth |
0000824 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Ichthyosis | 0008064 | |
Decreased immune function
|
0002721 | |
Oral ulcer |
Mouth ulcer
|
0000155 |
Osteomyelitis |
Bone infection
|
0002754 |
Proximal femoral epiphysiolysis |
Slipped end part of innermost thighbone
|
0006461 |
Proximal femoral metaphyseal irregularity | 0003411 | |
Sepsis |
Infection in blood stream
|
0100806 |
Percent of people who have these symptoms is not available through HPO | ||
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
0000007 | ||
Coxa vara | 0002812 | |
Enlargement of the costochondral junction | 0000920 | |
Global |
0001263 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
Irregular ossification at anterior rib ends | 0006598 | |
Metaphyseal sclerosis |
Increased bone density in wide portion of long bone
|
0004979 |
Myocardial necrosis | 0001700 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Narrow greater sciatic notch | 0003375 | |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
|
0002643 |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
Ovoid vertebral bodies | 0003300 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Persistence of hemoglobin F | 0011904 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Specific learning disability | 0001328 |
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 cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, Blackfan-Diamond anemia, celiac disease, and autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (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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