What are the symptoms of Waardenburg syndrome ?
What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg 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 facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - 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.