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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
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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
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