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 the clavicle||90%|
|Abnormality of the fontanelles or cranial sutures||90%|
|Short distal phalanx of finger||90%|
|Abnormal hair quantity||50%|
|Abnormality of adipose tissue||50%|
|Abnormality of lipid metabolism||50%|
|Abnormality of the nail||50%|
|Abnormality of the teeth||50%|
|Atypical scarring of skin||50%|
|Convex nasal ridge||50%|
|Prematurely aged appearance||50%|
|Abnormality of the genital system||7.5%|
|Abnormality of the neck||-|
|Acroosteolysis of distal phalanges (feet)||-|
|Autosomal recessive inheritance||-|
|Decreased adipose tissue around neck||-|
|Delayed cranial suture closure||-|
|Insulin-resistant diabetes mellitus||-|
|Loss of facial adipose tissue||-|
|Loss of subcutaneous adipose tissue in limbs||-|
|Loss of truncal subcutaneous adipose tissue||-|
|Narrow nasal ridge||-|
|Osteolytic defects of the distal phalanges of the hand||-|
|Premature loss of teeth||-|
|Progressive clavicular acroosteolysis||-|
|Short phalanx of finger||-|
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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