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|
Flexed joint that cannot be straightened
|Periarticular subcutaneous nodules||0007470|
|30%-79% of people have these symptoms|
|Cherry red spot of the macula||0010729|
|EMG: chronic denervation signs||0003444|
|Failure to thrive||
Weight faltering[ more ]
|Global developmental delay||0001263|
Decreased muscle tone in infant
Mental retardation, nonspecific
Mental-retardation[ more ]
|5%-29% of people have these symptoms|
|Abnormal conjunctiva morphology||0000502|
|Abnormal epiglottis morphology||0005483|
|Abnormal sternum morphology||
Abnormality of the sternum
Sternal anomalies[ more ]
|Abnormality of the elbow||
Abnormality of the elbows
|Abnormality of the knee||0002815|
|Abnormality of the wrist||
Abnormalities of the wrists
Partial or complete collapse of part or entire lung
Brain wasting[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Diffuse reticular or finely nodular infiltrations||0002207|
Inability to produce voice sounds
Poor feeding[ more ]
Enlarged liver and spleen
Inability to speak
Muteness[ more ]
|Nodular pattern on pulmonary HRCT||0025392|
Increased body temperature, episodic
Intermittent fever[ more ]
|Recurrent upper respiratory tract infections||
Difficulty breathing[ more ]
Decreased body height
Small stature[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Involuntary muscle stiffness, contraction, or spasm
|Visual fixation instability||0025405|
|1%-4% of people have these symptoms|
|Abnormal facial shape||
Unusual facial appearance
Low number of red blood cells or hemoglobin
Accumulation of fluid in the abdomen
|Elevated hepatic transaminase||
High liver enzymes
|Intrahepatic cholestasis with episodic
|Loss of voice||0001686|
Swollen lymph nodes
Involuntary, rapid, rhythmic eye movements
|Opacification of the corneal stroma||0007759|
Partial paralysis of legs
Stubby toes[ more ]
Low platelet count
|Percent of people who have these symptoms is not available through HPO|
Worsens with time
Increased spleen size
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 juvenile idiopathic arthritis, stiff skin syndrome and lethal restrictive dermopathy. Encephalopathy due to prosaposin deficiency should also be excluded.
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.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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