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) |
| Atrial septal defect | Very frequent (present in 80%-99% of cases) |
| Broad forehead | Very frequent (present in 80%-99% of cases) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Very frequent (present in 80%-99% of cases) |
| Deviation of finger | Very frequent (present in 80%-99% of cases) |
| Dolichocephaly | Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Hypertonia | Very frequent (present in 80%-99% of cases) |
| Intrauterine growth retardation | Very frequent (present in 80%-99% of cases) |
| Low-set, posteriorly rotated ears | Very frequent (present in 80%-99% of cases) |
| Microretrognathia | Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Narrow face | Very frequent (present in 80%-99% of cases) |
| Narrow mouth | Very frequent (present in 80%-99% of cases) |
| Narrow palate | Very frequent (present in 80%-99% of cases) |
| Narrow pelvis bone | Very frequent (present in 80%-99% of cases) |
| Omphalocele | Very frequent (present in 80%-99% of cases) |
| Pointed helix | Very frequent (present in 80%-99% of cases) |
| Prominent occiput | Very frequent (present in 80%-99% of cases) |
| Short nose | Very frequent (present in 80%-99% of cases) |
| Triangular face | Very frequent (present in 80%-99% of cases) |
| Underdeveloped supraorbital ridges | Very frequent (present in 80%-99% of cases) |
| Ventricular septal defect | Very frequent (present in 80%-99% of cases) |
| Abnormality of female internal genitalia | Frequent (present in 30%-79% of cases) |
| Abnormality of the fontanelles or cranial sutures | Frequent (present in 30%-79% of cases) |
| Abnormality of the hip bone | Frequent (present in 30%-79% of cases) |
| Abnormality of the toenails | Frequent (present in 30%-79% of cases) |
| Anal atresia | Frequent (present in 30%-79% of cases) |
| Bilateral single transverse palmar creases | Frequent (present in 30%-79% of cases) |
| Blepharophimosis | Frequent (present in 30%-79% of cases) |
| Choanal atresia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Delayed skeletal maturation | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Esophageal atresia | Frequent (present in 30%-79% of cases) |
| Hydronephrosis | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Non-midline |
Frequent (present in 30%-79% of cases) |
| Oligohydramnios | Frequent (present in 30%-79% of cases) |
| Webbed neck | Frequent (present in 30%-79% of cases) |
| Abnormality of retinal pigmentation | Occasional (present in 5%-29% of cases) |
| Abnormality of the lower limb | Occasional (present in 5%-29% of cases) |
| Abnormality of the ribs | Occasional (present in 5%-29% of cases) |
| Anencephaly | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the |
Occasional (present in 5%-29% of cases) |
| Arnold-Chiari malformation | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Cyclopia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Holoprosencephaly | Occasional (present in 5%-29% of cases) |
| Iris coloboma | Occasional (present in 5%-29% of cases) |
| Microcornea | Occasional (present in 5%-29% of cases) |
| Microphthalmia | Occasional (present in 5%-29% of cases) |
| Postaxial hand |
Occasional (present in 5%-29% of cases) |
| Spina bifida | Occasional (present in 5%-29% of cases) |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
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 and his wife were told the baby she carries has Edwards syndrome. Does this mean if she gets pregnant again, any future child will have this condition as well? Will she be able to have a normal child? See answer
I lost a baby to Edwards syndrome. Are my surviving children at risk for any problems as a result? See answer
