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CHIME syndrome

Orpha number ORPHA3474
Synonym(s) Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual disability - ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

Prevalence is unknown. To date Zunich-Kaye syndrome has been described in 8 cases.

Zunich-Kaye 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.

Zunich-Kaye syndrome is caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2.

Transmission is autosomal recessive.


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