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%|
|Limitation of joint mobility||90%|
|Clubbing of toes||50%|
|Increased antibody level in blood||50%|
|Skeletal muscle atrophy||50%|
|Abnormal nasal morphology||7.5%|
|Abnormal pyramidal signs||7.5%|
|Abnormality of the tongue||7.5%|
|Congestive heart failure||7.5%|
|Thick lower lip vermilion||7.5%|
|Adipose tissue loss||-|
|Autosomal recessive inheritance||-|
|Basal ganglia calcification||-|
|Camptodactyly of finger||-|
|Clubbing of fingers||-|
|Elbow flexion contracture||-|
|Elevated erythrocyte sedimentation rate||-|
|Elevated hepatic transaminases||-|
|Failure to thrive||-|
|Flexion contracture of toe||-|
|Hyperpigmentation of the skin||-|
|Intellectual disability, mild||-|
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.