Weiss-Kruszka Syndrome (ZNF462 Disorder)

Chromosome location: 9p31.2

Gene: zinc finger protein 462, usually with loss of function


Inheritance: autosomal dominant or de novo pathogenic variant


Clinical features:

(1) metopic ridging or craniosynostosis

(2) developmental delay (motor, speech, global)

(3) autistic features

(4) abnormalities of the corpus callosum

(5) feeding difficulties

(6) variable congenital heart disorder (VSD, other)

(7) minor malformations of the hands or feet

(8) hypotonia

(9) hearing loss


Dysmorphic features:

(1) ptosis

(2) ear anomalies

(3) downward slanting palpebral fissures

(4) epicanthal folds

(5) arched eyebrows

(6) short up-turned nose with bulbous tip

(7) exaggerated cupid bow and/or wide philtrum

(8) hypertelorism

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