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 the renal tubule||90%|
|Abnormality of thrombocytes||90%|
|Limitation of joint mobility||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormal renal physiology||50%|
|Abnormality of coagulation||50%|
|Abnormality of temperature regulation||50%|
|Rocker bottom foot||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of the cardiac septa||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the palate||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Convex nasal ridge||7.5%|
|Depressed nasal bridge||7.5%|
|Sensorineural hearing impairment||7.5%|
|Upslanted palpebral fissure||7.5%|
|Nephrogenic diabetes insipidus||5%|
|Atria septal defect||-|
|Autosomal recessive inheritance||-|
|Cholestatic liver disease||-|
|Death in infancy||-|
|Elevated hepatic transaminases||-|
|Failure to thrive||-|
|Giant cell hepatitis||-|
|Renal tubular acidosis||-|
|Right ventricular hypertrophy||-|
|Ventricular septal defect||-|
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.