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 cortical bone morphology||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the ankles||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the knee||90%|
|Abnormality of the toenails||90%|
|Reduced bone mineral density||90%|
|Skeletal muscle atrophy||90%|
|Abnormality of metabolism/homeostasis||-|
|Abnormality of the eye||-|
|Acral ulceration leading to autoamputation of digits||-|
|Autosomal recessive inheritance||-|
|Decreased nerve conduction velocity||-|
|Decreased number of peripheral myelinated nerve fibers||-|
|Decreased sensory nerve conduction velocity||-|
|Decreased taste sensation||-|
|Feeding difficulties in infancy||-|
|Osteolytic defects of the phalanges of the hand||-|
|Painless fractures due to injury||-|
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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.
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