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%|
|Convex nasal ridge||90%|
|Hypopigmented skin patches||90%|
|Limitation of joint mobility||90%|
|Prematurely aged appearance||90%|
|Abnormality of the eyebrow||50%|
|Abnormality of the nail||50%|
|Abnormality of the teeth||50%|
|Lack of skin elasticity||50%|
|Abnormality of lipid metabolism||7.5%|
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.
The following diseases are related to Mandibuloacral dysplasia. If you have a question about any of these diseases, you can contact GARD.