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 chromosome segregation | 90% |
| Atria septal defect | 90% |
| Broad forehead | 90% |
| Camptodactyly of finger | 90% |
| Cognitive impairment | 90% |
| Cryptorchidism | 90% |
| Decreased body weight | 90% |
| Deviation of finger | 90% |
| Dolichocephaly | 90% |
| High forehead | 90% |
| Hypertelorism | 90% |
| Hypertonia | 90% |
| Intrauterine growth retardation | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Muscular hypotonia | 90% |
| Narrow face | 90% |
| Narrow mouth | 90% |
| Omphalocele | 90% |
| Pointed helix | 90% |
| Prominent occiput | 90% |
| Short nose | 90% |
| Short stature | 90% |
| Triangular face | 90% |
| Underdeveloped supraorbital ridges | 90% |
| Ventricular septal defect | 90% |
| Abnormality of female internal genitalia | 50% |
| Abnormality of the fontanelles or cranial sutures | 50% |
| Abnormality of the hip bone | 50% |
| Abnormality of the toenails | 50% |
| Abnormality of the upper urinary tract | 50% |
| Blepharophimosis | 50% |
| Choanal atresia | 50% |
| Congenital diaphragmatic hernia | 50% |
| Delayed skeletal maturation | 50% |
| Epicanthus | 50% |
| Microcephaly | 50% |
| Non-midline cleft lip | 50% |
| Oligohydramnios | 50% |
| Single transverse palmar crease | 50% |
| Urogenital fistula | 50% |
| Webbed neck | 50% |
| Abnormality of retinal pigmentation | 7.5% |
| Abnormality of the ribs | 7.5% |
| Anencephaly | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Arnold-Chiari malformation | 7.5% |
| Cataract | 7.5% |
| Cyclopia | 7.5% |
| Glaucoma | 7.5% |
| Holoprosencephaly | 7.5% |
| Iris coloboma | 7.5% |
| Microcornea | 7.5% |
| Postaxial hand polydactyly | 7.5% |
| Spina bifida | 7.5% |
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.
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.
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
