Wardenburg syndrome


Wardenburg’s syndrome is a group of hereditary multiple congenital malformations with a characteristic pigmentation disorder and deafness.

    • Type I (*193500, 2q35, PAC3 gene defect, R). Clinically: partial skin albinism, early graying of the hair, telecanthus (optional), heterochromia of the irises, sensorineural hearing loss, broad bridge of the nose, cleft lip/palate, Hirschsprung disease, short nasal bones, relative enlargement of the lower third of the face, bifid vertebral arches, lumbar – sacral spinal hernia, aplasia of the vagina, ovaries, rhabdomyosarcoma.
    • Types Ha (156845, Zp14.1-p12.3, MITF gene defect, R) and lib (#103470, Ilql4-q21, TYR gene defect [203100], R). Clinically: reduced visual acuity, photophobia, nystagmus, translucent irises, strabismus, farsightedness, depigmented fundus, optic fossa hypoplasia,

optic nerve dysplasia, skin hypomelanosis, freckles, deafness, vestibular hypofunction, in type 2a – facial changes, as in type I. Laboratory: macromelanosomes.

    • Type III (#148820, 9t, extended deletion). Clinically: skeletal and muscle hypoplasia, flexion contractures, syndactyly, microcephaly, mental retardation, spastic paraplegia, pterygoid scapulae, telecanthus, blepharophimosis, partial albinism, hearing loss, broad bridge of the nose, Hirschsprung’s disease. Synonyms: Klein-Wardenburg syndrome, Wardenburg syndrome with upper limb anomalies
    • Würdenburg variant IIIA (277580, 20ql3.2-ql3.3, endothelin 3 gene defect EDN3, [131242], p) Clinically: eyebrow and eyelash hypopigmentation, congenital intestinal obstruction, iris isochromia (light brown with areas of hypopigmentation) , the usual shape of the nose, the absence of skin depigmentation, deafness, the expansion of the proximal ileum, collapsed distal ileum and colon.

ICD. Q87.8 Other specified congenital malformation syndromes, not elsewhere classified

MIM. Wardenburg syndrome:

  • type I (193500)
  • type Na (156845)
  • lib type (103470)
  • type 111 (148820)
  • Würdenburg variant Ilia (277580) Note. Anophthalmia-syndactyly syndrome (*206920, p) also bears the name of Wardenburg. Clinically: anophthalmia, bilateral syndactyly of the 4th and 5th toes, synostosis of the 4th and 5th metatarsal bones, absence of the little fingers on the legs, hypoplasia of the fibula, shortening of the femur or tibia. Literature. Kiein D: Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-osteo-articulaire. Helv. Paediat. Acta 5: 38-58, 1950; Morell R et al: Apparent digenic inheritance of WS2 and AROA. Hum. Moke. Genet. 6:659-664,1997; Shah KN et al: White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. / Pediat. 99:432-435,1981

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