Physical Examination
Persons with type I Waardenburg syndrome present with unpigmented macules of the skin varying markedly in size and number. Associated with the cutaneous amelanosis are heterochromic irides that can be partial and/or unilateral (bichromia), sensorineural deafness with the absence or reduction of melanocytes in the cochlea, and dystopia canthorum, which manifests as a broadening of the base of the nose. [23]
Persons with type II Waardenburg syndrome present with features similar to those with type I Waardenburg, but they lack dystopia canthorum.
Persons with type III Waardenburg syndrome present with the same features as those with type I Waardenburg syndrome but with additional musculoskeletal abnormalities of the face and upper torso.
Persons with type IV Waardenburg syndrome present with variable cutaneous hypopigmentation, cochlear neurosensory deafness, and enteric aganglionosis, similar to persons with Hirschsprung syndrome. [24, 25]
Persons with Apert syndrome present with craniosynostosis (premature fusion of cranial sutures), craniofacial anomalies, and asymmetric syndactyly of both the hands and the feet. [26, 27] Cutaneous and ocular hypopigmentation is readily apparent in approximately 27% of people with Apert syndrome.
Persons with Pfeiffer syndrome present with craniosynostosis and broadening of the greater toes and thumbs. Cutaneous hypopigmentation occurs in approximately 10%. [28]
Persons with Jackson-Weiss syndrome present with craniosynostosis, wide feet, and normal hands.
Persons with Crouzon syndrome present with cranial defects only. (Apparent cutaneous hypopigmentation has not been described in people with Jackson-Weiss or Crouzon syndromes.)
Persons with Waardenburg syndrome type IV (Hirschsprung syndrome) primarily present with congenital aganglionic megacolon. This syndrome results from the absence of neural crest cells in the colon with the subsequent failure to form Meissner and Auerbach autonomic plexuses in the intestinal smooth muscle wall. Hirschsprung syndrome, in many people, is associated with hypopigmentation of varying extent, heterochromic irides, and deafness.
Persons with piebaldism present with cutaneous amelanosis ranging from only a small, white forelock with minimal ventral unpigmented areas to an almost total lack of skin and hair pigmentation. Rarely, the melanocytes in the eye or ear are affected.
