Question: What is (are) Waardenburg syndrome ?
Answer: Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.
Source: GARD

Question: What are the symptoms of Waardenburg syndrome ?
Answer: 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.
Source: GARD

Question: How to diagnose Waardenburg syndrome ?
Answer: How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).
Source: GARD