What are the symptoms of Ramos Arroyo Clark syndrome ?
What are the signs and symptoms of Ramos Arroyo Clark syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark 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 retinal pigmentation 90% Cognitive impairment 90% Corneal dystrophy 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Inflammatory abnormality of the eye 90% Lacrimation abnormality 90% Large face 90% Malar flattening 90% Sensorineural hearing impairment 90% Upslanted palpebral fissure 90% Visual impairment 90% Aganglionic megacolon 50% Patent ductus arteriosus 50% Abnormality of the upper urinary tract 7.5% Apnea 7.5% Atria septal defect 7.5% Absent retinal pigment epithelium - Anteverted nares - Autosomal dominant inheritance - Broad eyebrow - Decreased corneal sensation - Failure to thrive - Hypoplasia of midface - Intellectual disability - Keratitis - Low-set ears - Reduced visual acuity - Short stature - 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.