What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ?
What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. 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% Aplasia/Hypoplasia of the thumb 90% Irregular hyperpigmentation 90% Short stature 90% Abnormality of dental morphology 50% Abnormality of the fingernails 50% Abnormality of the pinna 50% Camptodactyly of finger 50% Cognitive impairment 50% Hypopigmented skin patches 50% Neurological speech impairment 50% Palmoplantar keratoderma 50% Triphalangeal thumb 50% Urticaria 50% Finger syndactyly 7.5% Alopecia - Autosomal dominant inheritance - Increased groin pigmentation with raindrop depigmentation - Intellectual disability - Short thumb - 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.