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)|
|Highly arched eyebrow||33%|
|Aortic valve stenosis||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Bilateral single transverse palmar creases||-|
|Camptodactyly of finger||-|
|Coronal cleft vertebrae||-|
|Decreased hip abduction||-|
|Delayed eruption of teeth||-|
|Delayed gross motor development||-|
|Delayed skeletal maturation||-|
|Deviation of the 5th finger||-|
|Fixed elbow flexion||-|
|Generalized bone demineralization||-|
|Hypoplasia of the capital femoral epiphysis||-|
|Hypoplasia of the ulna||-|
|Intervertebral space narrowing||-|
|Irregular vertebral endplates||-|
|Limited hip extension||-|
|Multiple carpal ossification centers||-|
|Narrow vertebral interpedicular distance||-|
|Short distal phalanx of finger||-|
|Short femoral neck||-|
|Short phalanx of finger||-|
|Ventricular septal defect||-|
|Wide intermamillary distance||-|
|Widely spaced teeth||-|
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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