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||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.