Autoszomális domináns
Au-Kline syndrome is caused by a change in one copy of HNRNPK, an RNA-binding protein that controls the activity of many genes, usually through variants that stop it working. Most cases arise de novo.
Tünetek és jelek
Developmental delay and intellectual disability, low muscle tone and distinctive facial features such as long eye openings, droopy eyelids and a broad nose are typical. Congenital heart defects and kidney differences such as hydronephrosis are common, and skeletal differences also occur. Less often there are feeding difficulties, hearing loss, cleft palate or craniosynostosis.
Mit változtat a diagnózis
Management includes heart, skeletal, kidney, hearing and eye assessment, with developmental, educational and therapy support. Most cases arise de novo, but each child of an affected person has a 50% chance of inheriting the change, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Au-Kline syndrome
- neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
