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|
|Abnormal blistering of the skin||
Blisters[ more ]
|Abnormal fingernail morphology||
Abnormality of the fingernails[ more ]
|Abnormality of neutrophils||0001874|
Low number of red blood cells or hemoglobin
Poor nail formation
Oral white patch
Low platelet count
|30%-79% of people have these symptoms|
|Abnormal morphology of female internal genitalia||0000008|
|Abnormality of coagulation||0001928|
|Abnormality of the pharynx||0000600|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Absent/underdeveloped toenails[ more ]
|Bone marrow hypocellularity||
Bone marrow failure
Tooth decay[ more ]
Narrowing of the esophagus
Sweating, increased[ more ]
Failure of development of between one and six teeth
|Hypopigmented skin patches||
Patchy loss of skin color
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|Rough bone trabeculation||0100670|
Decreased body height
Small stature[ more ]
Open skin sore
|Telangiectasia of the skin||0100585|
Narrowing of the urethra
|5%-29% of people have these symptoms|
|Abnormal eyebrow morphology||
Abnormality of the eyebrow
|Abnormal eyelash morphology||
Abnormality of the eyelashes
Eyelash abnormality[ more ]
Abnormality of the testis
Death of bone due to decreased blood supply
Inflammation of eyelids
Clouding of the lens of the eye
Cloudy lens[ more ]
Abnormal deposits of calcium in the brain
Scar tissue replaces healthy tissue in the liver
|Displacement of the urethral meatus||0100627|
Hearing defect[ more ]
|Hypoplasia of the maxilla||
Decreased size of maxilla
Decreased size of upper jaw
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion[ more ]
Cancer of lymphatic system
Cancer of the pancreas
Pancreatic tumor[ more ]
Thickening of palms and soles
|Premature graying of hair||
Premature hair graying[ more ]
Increased spleen size
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
Differential diagnosis includes palmoplantar keratoderma-spastic paralysis syndrome, nail-patella syndrome, autosomal dominant nail dysplasia, poikiloderma with netropenia, Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond Anemia, idiopathic aplastic anemia, idiopathic pulmonary fibrosis, Coats plus syndrome.
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.