ApexaQLA Suisse
Neurological & Genetic

Genetic syndromes

Complex genetic conditions — Down, Rett, Angelman, PURA, CHARGE, 22q11.2 (DiGeorge), Phelan-McDermid, Prader-Willi, Williams, Cri-du-chat and Fragile X syndromes — typically presenting with global developmental delays, tone abnormalities, cognitive impairment and motor coordination challenges. Our ORCA framework architects therapy around each child's specific clinical picture.

Syndromes we work with

We have hands-on experience with the syndromes named below — and with many rare variants that don't fit neatly into any of them. If your child's diagnosis isn't here, please reach out: we work with complex and rare cases every day.

  • Down syndrome (Trisomy 21)
    Gene · Chr 21
  • Rett syndrome
    Gene · MECP2
  • Angelman syndrome
    Gene · UBE3A · 15q11-13
  • PURA syndrome
    Gene · PURA
  • CHARGE syndrome
    Gene · CHD7
  • 22q11.2 deletion (DiGeorge · Velocardiofacial)
    Gene · 22q11.2
  • Phelan-McDermid syndrome
    Gene · SHANK3 · 22q13.3
  • Prader-Willi syndrome
    Gene · 15q11-13 pat
  • Williams syndrome
    Gene · 7q11.23
  • Cri-du-chat syndrome
    Gene · 5p-
  • Cornelia de Lange syndrome
    Gene · NIPBL et al.
  • Smith-Magenis syndrome
    Gene · 17p11.2 · RAI1
  • Fragile X syndrome
    Gene · FMR1
  • Xia-Gibbs syndrome
    Gene · AHDC1
Talk with our team about your child

Neurological & Genetic

Where we help