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 metabolism/homeostasis||-|
|Aortic valve stenosis||-|
|Atrial septal defect||-|
|Congenital diaphragmatic hernia||-|
|Congenital hip dislocation||-|
|Deeply set eye||-|
|Delayed eruption of primary teeth||-|
|Delayed speech and language development||-|
|Hypoplasia of the corpus callosum||-|
|Intrauterine growth retardation||-|
|Low hanging columella||-|
|Patent ductus arteriosus||-|
|Preauricular skin tag||-|
|Recurrent otitis media||-|
|Recurrent respiratory infections||-|
|Single umbilical artery||-|
|Thickened nuchal skin fold||-|
|Upslanted palpebral fissure||-|
|Ventricular septal defect||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My son has Emanuel syndrome. He has had increased urination and after many tests an MRI showed 3 tumors on his spine. Is there a known link between spinal tumors and Emanuel syndrome? If so, are these tumors usually benign? See answer
I have a chance to work with a child who has Emanuel sydrome. What is a child with this capable of learning? Is there a Web page that summarizes this syndrome and would be helpful to me? See answer