Latar belakang: Sindrom Waardenburg adalah suatu kelainan yang bersifat autosomal dominan yang ditandai oleh gangguan pendengaran sensorineural dan kelainan pigmen pada mata, rambut, dan kulit. Sindrom auditori-pigmen ini terjadi karena tidak adanya melanosit dari kulit, rambut, mata, serta stria vaskularis pada koklea. Tujuan: Memberikan informasi mengenai manifestasi klinis Sindrom Waardenburg sehingga dapat melakukan deteksi dan penanganan sedini mungkin, terutama untuk gangguan pendengaran. Kasus: Seorang anak laki-laki berusia 7 tahun dengan keterlambatan deteksi gangguan pendengaran. Orang tua anak tidak mengetahui bahwa gangguan pendengaran tersebut merupakan salah satu manifestasi sindrom Waardenburg, sehingga pada anak ini terdapat gangguan perkembangan wicara. Metode: Penelusuran literatur menghasilkan 14 jurnal, dan terdapat 2 jurnal yang relevan. Hasil: Dari 2 jurnal yang didapat, ditemukan 1 artikel penelitian dan 1 laporan kasus sindrom Waardenburg yang memaparkan berbagai manifestasi klinis yang menyertai pasien. Kesimpulan: Deteksi dini dan penatalaksanaan untuk gangguan pendengaran yang merupakan manifestasi klinis tersering dari sindrom Waardenburg, penting dilakukan karena mempengaruhi perkembangan individu dan perkembangan sosial pasien. Kata kunci: Sindrom auditori-pigmentasi, kelainan pigmen, gangguan pendengaran sensorineural, sindrom Waardenburg ABSTRACT Background: Waardenburg Syndrome (WS) is an autosomal-dominant disorder, characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, and the stria vascularis of the cochlea. Purpose: To provide information regarding clinical manifestation of Waardenburg Syndrome for early detection and prompt treatment particularly for hearing impairments. Case: A 7-year-old boy with late detection of hearing impairment. Previously, his parents didn’t recognize that this condition was one manifestation of Waardenburg syndrome, so that this patient developed speech delay. Method: Searching for evidence produced 14 journals and only 2 journals were relevant. Result: Of the 2 relevant journals, there were 1 research article and 1 case report that explained several clinical manifestations of Waardenberg Syndrome. Conclusion: Early detection and management of hearing impairment as one of frequent clinical manifestation of Waardenberg Syndrome is significantly important since this condition could influence patient’s individual and social developments. Keywords: Auditory pigmentary syndrome, pigmentary abnormality, sensorineural hearing loss, Waardenburg syndrome
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