Au-Kline Syndrome

Original Editor - Rucha Gadgil
Top Contributors - Rucha Gadgil, Reem Ramadan and Uchechukwu Chukwuemeka

Introduction

Au–Kline syndrome (AKS) is a multiple congenital malformation syndrome associated with intellectual disability. It is primarily caused by loss-of-function variants in the gene HNRNPK, which encodes the heterogeneous nuclear ribonucleoprotein K (hn RNP K). It can be categorized as a very rare autosomal dominant genetic condition characterised by:

1. Congenital hydronephrosis,
2. Low muscle tone,
3. Heart defects,
4. Intellectual disability,and
5. Characteristic facial features: prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis)
6. Neurological and skeletal abnormalities,
7. Urinary tract infections.
8. Language and walking .

Clinically Relevant Anatomy

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Mechanism of Injury / Pathological Process

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Clinical Presentation

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Diagnostic Procedures

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Outcome Measures

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Management / Interventions

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Differential Diagnosis

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Resources

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