CHIME syndrome
Definicija
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
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Pun naziv
CHIME syndrome
Kratki naziv
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Sinonimi
Zunich-Kaye syndrome_x000D_Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome_x000D_PIGL-CDG_x000D_Neuroectodermal dysplasia, CHIME type_x000D_Congenital disorder of glycosylation due to PIGL deficiency_x000D_Neuroectodermal syndrome, Zunich type
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Naziv na stranom jeziku
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Prevalenca
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Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
CHIME syndrome is characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum, anteverted nostrils, thin upper lip, and excessive creases around a wide mouth. Ears are low-set with thick overfolded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent (bifid uvula and/or submucous cleft), cardiac defects (tetralogy of Fallot or transposition of the great vessels), pectus excavatum and supernumerary nipples.
Etiologija
CHIME syndrome is caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
Prevalence is unknown. To date, CHIME syndrome has been described in 8 cases.
Genetsko savetovanje
Transmission is autosomal recessive.
Terapija
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Klinička istraživanja
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