Question: What are the symptoms of Scholte syndrome ?
Answer: What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte 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) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - 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