Question: What are the symptoms of Frias syndrome ?
Answer: What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias 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) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - 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