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 dental color||90%|
|Convex nasal ridge||90%|
|Thin vermilion border||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the femur||50%|
|Abnormality of the humerus||50%|
|Camptodactyly of finger||50%|
|Reduced bone mineral density||50%|
|Cerebral cortical atrophy||7.5%|
|Autosomal dominant inheritance||-|
|Hypoplasia of the maxilla||-|
|Multiple small vertebral fractures||-|
|Osteoporosis of vertebrae||-|
|Premature loss of teeth||-|
|Short 5th metacarpal||-|
|Short middle phalanx of the 2nd finger||-|
|Short middle phalanx of the 5th finger||-|
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.