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 cardiac septa | Very frequent (present in 80%-99% of cases) |
| Bifid nasal tip | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Microcornea | Very frequent (present in 80%-99% of cases) |
| Microphthalmia | Very frequent (present in 80%-99% of cases) |
| 2-3 toe |
Frequent (present in 30%-79% of cases) |
| Flexion |
Frequent (present in 30%-79% of cases) |
| Flexion contracture of the 4th toe | Frequent (present in 30%-79% of cases) |
| Fused teeth | Frequent (present in 30%-79% of cases) |
| Hammertoe | Frequent (present in 30%-79% of cases) |
| Long philtrum | Frequent (present in 30%-79% of cases) |
| Misalignment of teeth | Frequent (present in 30%-79% of cases) |
| Narrow face | Frequent (present in 30%-79% of cases) |
| Oligodontia | Frequent (present in 30%-79% of cases) |
| Prominent nasal bridge | Frequent (present in 30%-79% of cases) |
| Radioulnar synostosis | Frequent (present in 30%-79% of cases) |
| Submucous cleft hard palate | Frequent (present in 30%-79% of cases) |
| Adrenal insufficiency | Occasional (present in 5%-29% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Cubitus valgus | Occasional (present in 5%-29% of cases) |
| Decreased body weight | Occasional (present in 5%-29% of cases) |
| Dextrocardia | Occasional (present in 5%-29% of cases) |
| Double outlet right ventricle | Occasional (present in 5%-29% of cases) |
| Ectopia lentis | Occasional (present in 5%-29% of cases) |
| Feeding difficulties in infancy | Occasional (present in 5%-29% of cases) |
| Flexion contracture | Occasional (present in 5%-29% of cases) |
| Genu valgum | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hand clenching | Occasional (present in 5%-29% of cases) |
| Highly arched eyebrow | Occasional (present in 5%-29% of cases) |
| Hypoplasia of the |
Occasional (present in 5%-29% of cases) |
| Hypospadias | Occasional (present in 5%-29% of cases) |
| Hypothyroidism | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Intestinal malrotation | Occasional (present in 5%-29% of cases) |
| Iris coloboma | Occasional (present in 5%-29% of cases) |
| Mitral valve prolapse | Occasional (present in 5%-29% of cases) |
| Patent ductus arteriosus | Occasional (present in 5%-29% of cases) |
| Peripheral pulmonary artery stenosis | Occasional (present in 5%-29% of cases) |
| Phthisis bulbi | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Retinal detachment | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Short thumb | Occasional (present in 5%-29% of cases) |
| Single median maxillary incisor | Occasional (present in 5%-29% of cases) |
| Spastic paraparesis | Occasional (present in 5%-29% of cases) |
| Talipes equinovarus | Occasional (present in 5%-29% of cases) |
| Umbilical hernia | Occasional (present in 5%-29% of cases) |
| Anophthalmia | - |
| Aortic valve stenosis | - |
| Asymmetry of the ears | - |
| Atrial septal defect | - |
| Bifid uvula | - |
| Blepharophimosis | - |
| Broad nasal tip | - |
| - | |
| Cryptorchidism | - |
| Dental malocclusion | - |
| Exotropia | - |
| Increased number of teeth | - |
| Intellectual disability, mild | - |
| Laterally curved eyebrow | - |
| Long face | - |
| - | |
| Motor delay | - |
| Persistence of primary teeth | - |
| Posteriorly rotated ears | - |
| Pulmonic stenosis | - |
| Remnants of the hyaloid vascular system | - |
| Septate vagina | - |
| Thick eyebrow | - |
| Ventricular septal defect | - |
| Visual loss | - |
| - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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 Oculofaciocardiodental syndrome. If you have a question about any of these diseases, you can contact GARD.
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.
