Au-Kline Syndrome (AKS) is a rare disorder with a range of abnormalities.

Chromosome: 9q21.32

Gene: HNRNPK (heterogeneous nuclear ribonucleoprotein K)


Inheritance: autosomal dominant or de novo pathogenic variant


Clinical features:

(1) developmental delay

(2) hypotonia

(3) moderate to severe intellectual disability

(4) variable autonomic dysfunction (GI dysmotility, heat intolerance, recurrent fever, abnormal sweating, high pain threshold)

(5) variable congenital heart disease (VSD, ASD, bicuspid aortic valve, other)

(6) variable hydronephrosis

(7) palate abnormalities (cleft palate, high-arched palate, bifid uvula)

(8) variable craniosynostosis

(9) variable feeding difficulties

(10) variable impairment of vision

(11) variable osteopenia

(12) variable skeletal anomalies (congenital hip dysplasia, scoliosis, vertebral segmentation)

(13) variable undescended testes in male

(14) variable brain anomalies on MRI


Facial features:

(1) long palpebral fissures

(2) ptosis

(3) shallow orbits

(4) large and deeply grooved tongue

(5) broad nose and wide nasal bridge

(6) downturned mouth

(7) oligodontia


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