Q66.8
Conditions
Interventions
Group 1: Observational Study (Retrospective)
This retrospective observational study explores the potential association between EPHB4 gene variants of uncertain significance (VUS) and idiopathic toe wa
Sponsors
Pomarino. Praxis für Ganganomalien
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Zehenspitzengang mehr als die Hälfte des Tages Absolvieren eines spezifischen Gentests mit einem Panel von 49 Genen
Exclusion criteria
Exclusion criteria: Abwesenheit von neurologischen/orthopädischen Erkrankungen, wie Zerebralparese, Autismus-Spektrum-Störung, Tethered Cord-Syndrom, Kinder mit Geburtskomplikationen, schwere orthopädische Deformitäten einschließlich Beinlängendifferenzen, Skoliose oder schwere Fußdeformitäten
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The identification and classification of EPHB4 variants of uncertain significance (VUS) in 20 pediatric patients (100% of cohort) with idiopathic toe walking (ITW). Measured by: Frequency of Pathogenic (P), likely pathogenic (LP), and variants of uncertain significance (VUS) in EPHB4 gene using NGS panel testing. | — |
Secondary
| Measure | Time frame |
|---|---|
| Clinical Features: - Pes cavus: 8/20 patients (40 %) - Clinodactyly/Brachydactyly: 8/20 patients (40%) - Speech difficulties: 8/20 patients (40%) - Venous anomalies: 2/20 patients (10%) Additional Findings: - Pectus excavatum: 3/20 patients (15%) - Essential tremor: 1/20 patients (5%) - Lumbar hyperlordosis: 1/20 patients (5%) Family History: - Positive family history for similar symptoms: 4/20 patients (20%) | — |
Countries
Germany
Contacts
Public ContactDavid Pomarino
Pomarino. Praxis für Ganganomalien
Outcome results
None listed