Question: What are the symptoms of Rommen Mueller Sybert syndrome ?
Answer: What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert 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 palate 90% Cognitive impairment 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the nipple 50% Abnormality of the ribs 50% Anterior creases of earlobe 50% Downturned corners of mouth 50% Long palpebral fissure 50% Long philtrum 50% Plagiocephaly 50% Proximal placement of thumb 50% Single transverse palmar crease 50% Tetralogy of Fallot 50% Ventricular septal defect 50% 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