Waardenburg syndrome

Also known as: Waardenburg's syndrome

Definition

Genetics Home Reference

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

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Orphanet

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

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Symptoms

Medical Term Other Names Description
Heterochromia iridis Heterochromia irides, Different colored eyes Heterochromia iridis is a difference in the color of the iris in the two eyes.
Metatarsus adductus Metatarsus adductovarsus, Metatarsus varus, Forefoot varus, Intoe [more] The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Aganglionic megacolon Hirschsprung disease, Hirschsprung megacolon, Megacolon, Congenital megacolon [more] An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Abnormality of the upper limb Abnormality of the arm An abnormality of the arm.
White hair Hypopigmented hair that appears white.
Constipation Costiveness, Dyschezia Infrequent or difficult evacuation of feces.
Blue irides Blue eyes A markedly blue coloration of the iris.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Pallor Paleness Abnormally pale skin.
Poliosis White patch, Patch of white hair Circumscribed depigmentation of the hair of the head or the eyelashes.
Abnormality of skin pigmentation Abnormal skin pigmentation, Abnormal pigmentation, Abnormality of pigmentation, Pigmentary skin changes, Pigmentary changes, Pigmentation anomaly, Abnormal skin color [more] An abnormality of the pigmentation of the skin.

Other Classifiers and IDs

  • OrphaNet: ORPHA:3440
  • MedDRA: 10069203
  • MeSH: D014849
  • UMLS: C3266898