Question: What are the symptoms of Sillence syndrome ?
Answer: What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - 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