The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of temperature regulation | 90% |
| Arthralgia | 90% |
| Hepatomegaly | 90% |
| Hyperostosis | 90% |
| Limitation of joint mobility | 90% |
| Lipoatrophy | 90% |
| Skin rash | 90% |
| Splenomegaly | 90% |
| Clubbing of toes | 50% |
| Hyperhidrosis | 50% |
| Increased antibody level in blood | 50% |
| Lymphadenopathy | 50% |
| Muscle weakness | 50% |
| Skeletal muscle atrophy | 50% |
| Abnormal nasal morphology | 7.5% |
| Abnormal pyramidal signs | 7.5% |
| Abnormality of the tongue | 7.5% |
| Arachnodactyly | 7.5% |
| Arrhythmia | 7.5% |
| Cardiomegaly | 7.5% |
| Cognitive impairment | 7.5% |
| Congestive heart failure | 7.5% |
| Macrotia | 7.5% |
| Microcytic anemia | 7.5% |
| Respiratory insufficiency | 7.5% |
| Thick lower lip vermilion | 7.5% |
| Seizures | 5% |
| Short stature | 5% |
| Adipose tissue loss | - |
| Autosomal recessive inheritance | - |
| Basal ganglia calcification | - |
| Bone pain | - |
| Camptodactyly of finger | - |
| Clubbing of fingers | - |
| Conjunctivitis | - |
| Elbow flexion contracture | - |
| Elevated erythrocyte sedimentation rate | - |
| Elevated hepatic transaminases | - |
| Episcleritis | - |
| Erythema | - |
| Failure to thrive | - |
| Flexion contracture of toe | - |
| Hyperpigmentation of the skin | - |
| Hypertriglyceridemia | - |
| Intellectual disability, mild | - |
| Large eyes | - |
| Lipodystrophy | - |
| Long fingers | - |
| Macroglossia | - |
| Osteopenia | - |
| Panniculitis | - |
| Prominent nose | - |
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.
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.
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