Au-Kline Syndrome
Introduction[edit|edit source]
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 geneHNRNPK, which encodes the heterogeneous nuclear ribonucleoprotein K (hn RNP K). It can be categorized as a very rare autosomal dominant genetic condition characterised by:
- Congenital hydronephrosis,
- Low muscle tone,
- Heart defects,
- Intellectual disability,and
- Characteristic facial features: prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis)
- Neurological and skeletal abnormalities,
- Urinary tract infections.
- Language and walking .
Clinically Relevant Anatomy[edit|edit source]
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Mechanism of Injury / Pathological Process
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Clinical Presentation[edit|edit source]
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Diagnostic Procedures[edit|edit source]
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Outcome Measures[edit|edit source]
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Management / Interventions
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Differential Diagnosis
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Resources
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