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)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the clavicle||90%|
|Accelerated skeletal maturation||90%|
|Aplasia/Hypoplasia involving the nose||90%|
|Aplasia/Hypoplasia of the lungs||90%|
|Depressed nasal bridge||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormality of the metacarpal bones||50%|
|Abnormality of the tongue||50%|
|Advanced eruption of teeth||50%|
|Bowing of the long bones||50%|
|Synostosis of joints||50%|
|Advanced ossification of carpal bones||-|
|Advanced tarsal ossification||-|
|Autosomal recessive inheritance||-|
|Squared iliac bones||-|
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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