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 | 90% |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Cataract | 90% |
| Delayed eruption of teeth | 90% |
| Microcornea | 90% |
| Midline defect of the nose | 90% |
| Camptodactyly of toe | 50% |
| Long philtrum | 50% |
| Narrow face | 50% |
| Prominent nasal bridge | 50% |
| Radioulnar synostosis | 50% |
| Reduced number of teeth | 50% |
| Toe syndactyly | 50% |
| Abnormality of the mitral valve | 7.5% |
| Abnormality of the pulmonary valve | 7.5% |
| Aplasia/Hypoplasia of the thumb | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Cognitive impairment | 7.5% |
| Cubitus valgus | 7.5% |
| Ectopia lentis | 7.5% |
| Feeding difficulties in infancy | 7.5% |
| Genu valgum | 7.5% |
| Glaucoma | 7.5% |
| Highly arched eyebrow | 7.5% |
| Intestinal malrotation | 7.5% |
| Iris coloboma | 7.5% |
| Patent ductus arteriosus | 7.5% |
| Ptosis | 7.5% |
| Retinal detachment | 7.5% |
| Scoliosis | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Single median maxillary incisor | 7.5% |
| Adrenal insufficiency | 5% |
| Decreased body weight | 5% |
| Dextrocardia | 5% |
| Double outlet right ventricle | 5% |
| Flexion contracture | 5% |
| Hand clenching | 5% |
| Hypoplasia of the corpus callosum | 5% |
| Hypospadias | 5% |
| Hypothyroidism | 5% |
| Phthisis bulbi | 5% |
| Seizures | 5% |
| Spastic paraparesis | 5% |
| Talipes equinovarus | 5% |
| Umbilical hernia | 5% |
| 2-3 toe syndactyly | - |
| Anophthalmia | - |
| Aortic valve stenosis | - |
| Asymmetry of the ears | - |
| Atria septal defect | - |
| Bifid nasal tip | - |
| Bifid uvula | - |
| Blepharophimosis | - |
| Broad nasal tip | - |
| Congenital cataract | - |
| Cryptorchidism | - |
| Dental malocclusion | - |
| Exotropia | - |
| Fused teeth | - |
| Hammertoe | - |
| Increased number of teeth | - |
| Intellectual disability, mild | - |
| Laterally curved eyebrow | - |
| Long face | - |
| Microcephaly | - |
| Microphthalmia | - |
| Mitral valve prolapse | - |
| Motor delay | - |
| Oligodontia | - |
| Persistence of primary teeth | - |
| Posteriorly rotated ears | - |
| Pulmonic stenosis | - |
| Remnants of the hyaloid vascular system | - |
| Septate vagina | - |
| Short stature | - |
| Submucous cleft hard palate | - |
| Thick eyebrow | - |
| Ventricular septal defect | - |
| Visual loss | - |
| X-linked dominant inheritance | - |
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.
