Au-Kline Syndrome: Difference between revisions
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<div class="editorbox"> '''Original Editor '''- [[User:Rucha Gadgil|Rucha Gadgil]] <br> | <div class="editorbox"> '''Original Editor '''- [[User:Rucha Gadgil|Rucha Gadgil]] <br>'''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}}</div> | ||
== 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: | |||
== Clinically Relevant Anatomy | # 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 == | |||
add text here relating to '''''clinically relevant''''' anatomy of the condition<br> | add text here relating to '''''clinically relevant''''' anatomy of the condition<br> | ||
Revision as of 09:06, 26 September 2022
Top Contributors - Rucha Gadgil, Reem Ramadan, Uchechukwu Chukwuemeka and Khloud Shreif
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 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:
- 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]
add text here relating to clinically relevant anatomy of the condition
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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