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CHIME syndrome

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Disease definition

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

ORPHA:3474

Classification level: Disorder

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-11: LD27.0Y

OMIM: 280000

UMLS: C1848392

MeSH: C536729

GARD: 310

Summary
Epidemiology

Prevalence is unknown. To date, CHIME syndrome has been described in 8 cases.

Clinical description

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.

Etiology

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

Genetic counseling

Transmission is autosomal recessive.

Last update: October 2013
A summary on this disease is available in Français (2013) Español (2013) Deutsch (2013) Italiano (2013) Nederlands (2013) Русский (2013.pdf)
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