[MIM 280 000]

See also Hyperphosphatasia with mental retardation syndrome

(Zunich-Keye syndrome, neuroectodermic Zunich syndrome, congenital anomaly of glycosylation by deficiency in PIGL)

Acronym for Colobomas-Heart disease-Ichthyosiform dermatosis-Mental retardation and Ear anomalies.

Prevalence is unknown but probably <1.106. Due to mutations of the  glycosylphosphatidylinositol PIGL gene (17p12-p11.2.)

Clinical presentation:

-        migratory ichthyosiform dermatosis (early onset)

-        bilateral ocular coloboma,

-        conduction deafness,

-        seizures,

-        intellectual deficit

-        characteristic facial dysmorphism: brachycephaly, slightly  up- and outside slanting palpebral fissures , pale blue iris, hypertelorism, midface hypoplasia, anteverted nostrils, short philtrum, thin upper lip and wide mouth with full lips. The ears are low set with overfolded helices The teeth are square and widely spaced.

Sometimes: cleft palate or less severe equivalent (bifid uvula and/or submucosal cleft), heart disease (tetralogy of Fallot) or transposition of the great vessels, pectus excavatum and supernumerary nipples.

Anesthetic implications:

management of a hypotonic, epileptic child with variable mental retardation

References:        

-        Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D et al.
Congenital disorders of glycosylphosphatidylinositol (GPI—anchor biosynthesis- The phenotype of two patients with novel mutations in the PIGN and PAGP2 genes.
Eur J Paediatr Neurol 2016; 20: 462-73.

Updated: November 2017