Question: What are the symptoms of Brachydactyly Mononen type ?
Answer: What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. 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) Micromelia 90% Short distal phalanx of finger 90% Short hallux 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormal dermatoglyphics 50% Abnormality of epiphysis morphology 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Exostoses 50% Short stature 50% Symphalangism affecting the phalanges of the hand 50% Hernia of the abdominal wall 7.5% Absent distal phalanx of the 2nd toe - Aplasia of the distal phalanx of the 2nd finger - Mild short stature - Proximal fibular overgrowth - Short 1st metacarpal - Short first metatarsal - Synostosis of carpals/tarsals - X-linked dominant inheritance - 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