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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 13874 keratitis-ichthyosis-deafness Eponyms: Inheritance: KID syndrome SENTER-KID syndrome supposed autosomal dominant Semeiological Cutaneous-oculo-oto disorder. Hyperkeratotic skin lesions, hearing defects, corneal opacification. Synthesis: Group Sub group Signs: AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features isolated dermatological disorders ectodermal dysplasia ectodermal dysplasia, hydrotic hair, changes hair, sparse not including alopecia totalis keratinisation defects acanthosis nigricans ichthyosis keratosis, hyperkeratosis, keratoderma, scaling cutis GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies liver cirrhosis LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 13q localization gene, structural-functional anomalies DFNB1 (GJB2) (PPK) (DFNA3) (KID) (CX26) (HID) (gap-junction protein connexin 26) gene chr.13q11-q12 gene analysis-DNA analysis infective agents bacterial infections recurrent infections, without specific humoral/cellular immunity plasma proteins, anomalies immunodefects, cellular T-cell immunological disorders OCULAR DISORDERS corneal defects not including dystrophy corneal clouding corneal erosions, infections OTHERS supergroups cutaneous-oculo disorders cutaneous-oto disorders oculo-oto disorders Super group: keratitis-ichthyosis-deafness cutaneous-ocular disorders cutaneous-oto disorders oculo-oto disorders Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super aggreg. DEAFNESS deafness, in syndromic association Aggregations: ECTODERMAL DYSPLASIA ectodermal dysplasia, hydrotic INFECTIONS SUSCEPTIBILITY immunodefects, cellular T-cell recurrent infections, without specific humoral/cellular immunity METABOLIC DISORDERS immunological disorders OTHER isolated dermatological disorders Differential diagnosis: Bibliography keratitis-ichthyosis-deafness 28614 13175 16600 23680 HID syndrome ichthyosis histrix microphthalmia-ichthyosis syndrome Senter syndrome OMIM ID: 148210 Smith's Recognizable Patterns of Human Malformation. 5th Edition pag. 554 J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006 Page 2 of 2
