The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve the knowledge of its evolution. To this end, the investigators would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Children and adults of any age.
* Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).
Exclusion Criteria:
* Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.
* Patient having already participated in a DESSH study with published data.
* No patient data available.
Primary outcome measure(s)
Clinical knowledge — Through study completion, an average of 2 years Morphologic description with photos (optional) at a specified date (front and side of the face, hands-feet : plant and palm) using HPO terms
Clinical knowledge — Through study completion, an average of 2 years Overall clinical examination and interrogatory at the last medical consultation (neurologic, cardiologic, gastroenterologic, pulmonary, urinary, global development, etc.) : data collected using a redcap form.
Clinical knowledge — Through study completion, an average of 2 years Height, weight and head circumferance at birth and at last visit
Paraclinical knowledge — Through study completion, an average of 2 years Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD
Paraclinical knowledge — Through study completion, an average of 2 years Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography
Trial sites (1)
Facility
City
Region
Status
Clermont-Ferrand University Hospital
Clermont-Ferrand
Auvergne
Recruiting
More University Hospital, Clermont-Ferrand trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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