What are the symptoms of Waardenburg syndrome type 2 ?
What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. 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) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - Wide nasal bridge - 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.