Topic: Oculofaciocardiodental syndrome
Question: What are the symptoms of Oculofaciocardiodental syndrome ?
Answer: What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. 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% Cleft palate 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% 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 - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)