Waardenburg syndrome- type 4
Overview
Type IV Waardenburg syndrome (Shah-Waardenburg syndrome) is the association of Waardenburg syndrome with congenital aganglionic megacolon (Hirschsprung disease).4 Hirschsprung disease affects 1 neonate per 5 births.
Symptoms
Dystopia canthorum is found in 41.2-99% of persons with Waardenburg syndrome. The distance between the inner angles of the eyelids is accompanied by increased distance between the inferior lacrimal points. Hageman and Delleman divided Waardenburg syndrome into 2 variants: with dystopia canthorum and without. Congenital deafmutism occurs in 9-62.5% of persons with Waardenburg syndrome. Different combinations of hearing loss occur: unilateral or bilateral, severe or moderate, total or moderate. Fisch separated Waardenburg syndrome into the following distinct types according to audiogram results. o Patients with total deafness and little residual hearing at the lower frequency o Patients with a moderate degree of deafness with uniform hearing loss in the lower and middle frequency with improvement in the higher frequency Overall, 1% of patients with hearing loss and Waardenburg syndrome have temporal bone anomalies on at least one measurement of their inner ear and 5% have an enlargement of the vestibular aqueduct at the mid point.5 As shown by computed tomography, enlargement of the vestibular aqueduct and the upper vestibule, narrowing of the internal auditory canal porus, and hypoplasia of the modiolus are features of Waardenburg syndrome.
Causes
type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Diagnosis
The phrase "signs of Waardenburg syndrome, type 4" should, strictly speaking, refer only to those signs and symptoms of Waardenburg syndrome, type 4 that are not readily apparent to the patient. The word "symptoms of Waardenburg syndrome, type 4" is the more general meaning; see symptoms of Waardenburg syndrome, type 4. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Waardenburg syndrome, type 4. This medical information about signs and symptoms for Waardenburg syndrome, type 4 has been gathered from various sources, may not be fully accurate, and may not be the full list of Waardenburg syndrome, type 4 signs or Waardenburg syndrome, type 4 symptoms. Furthermore, signs and symptoms of Waardenburg syndrome, type 4 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Waardenburg syndrome, type 4 symptoms.