TY - CHAP M1 - Book, Section TI - Syndromic Hearing Loss A1 - Hernandez, Amy L. A1 - Rehm, Heidi A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Usher syndrome is characterized by sensorineural hearing loss and retinitis pigmentosa (RP) with or without vestibular dysfunction.Pendred syndrome is characterized by nonsyndromic hearing loss with enlarged vestibular aqueducts (EVA) and/or Mondini dysplasia (incomplete partition or common cavity malformation of the inner ear) in combination with euthyroid goiter or thyroid dysfunction. DFNB4 hearing loss is characterized by the same features of Pendred syndrome without thyroid abnormalities.Hereditary basis:Usher syndrome is inherited in an autosomal recessive manner.Pendred syndrome or DFNB4 hearing loss is inherited in an autosomal recessive manner. However, there are rare reports of possible digenic inheritance involving the FOXI1 and KCNJ10 genes.Differential diagnosis:Usher syndromeNonsyndromic hearing loss or nonsyndromic RPDeafness-dystonia-optic neuronopathy (DDON)Mitochondrial disordersDiabetic neuropathyViral infectionsAlstrom syndromeBardet-Biedl syndromePendred syndromeBranchiootorenal syndrome (BOR)Brachiooto syndrome (BO)Waardenburg syndromeDeafness associated with the recessive form of distal renal tubular acidosis SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102706372 ER -