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 cerebral white matter||-|
|Absence of the pulmonary valve||-|
|Aortic valve stenosis||-|
|Atresia of the external auditory canal||-|
|Atrial septal defect||-|
|Autosomal dominant inheritance||-|
|Cleft upper lip||-|
|Conductive hearing impairment||-|
|Congestive heart failure||-|
|Delayed CNS myelination||-|
|Dilatation of the ascending aorta||-|
|Downslanted palpebral fissures||-|
|Downturned corners of mouth||-|
|Dysplastic aortic valve||-|
|Dysplastic pulmonary valve||-|
|Failure to thrive in infancy||-|
|Growth hormone deficiency||-|
|Low anterior hairline||-|
|Patent ductus arteriosus||-|
|Proximal placement of thumb||-|
|Recurrent respiratory infections||-|
|Rocker bottom foot||-|
|Secretory IgA deficiency||-|
|Sensorineural hearing impairment||-|
|Short palpebral fissure||-|
|Stenosis of the external auditory canal||-|
|U-Shaped upper lip vermilion||-|
|Ventricular septal defect||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
The following diseases are related to Distal chromosome 18q deletion syndrome. If you have a question about any of these diseases, you can contact GARD.
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