DeSanto-Shinawi Syndrome, DESSH, OMIM#616708, ORPHA:466943, WAC, WAC SYNDROME
Conditions
Keywords
Further delineation of the De Santo Shinawi Syndrome, Serie of patients with DESSH, Better characterization of DeSanto-Shinawi Syndrome, Series of individuals with pathogenic WAC variant, WAC, DeSanto, DeSanto-Shinawi, De Santo Shinawi, DESSH, OMIM 616708, OMIM#616708, ORPHA:466943, ORPHA 466943
Brief summary
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.
Detailed description
Main objective : Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome. Secondary objectives: * Inventory the clinical signs of the syndrome described to date and look for recurrence between patients. * Select a set of standardized clinical and paraclinical examinations for diagnosis. * Establish appropriate management and follow-up. * To compare the phenotype of patients with DESSH due to a pathogenic point variation in the WAC gene and those with a microdeletion involving the WAC gene. Main inclusion criteria: Children and adults of any age. Molecular diagnosis of a pathogenic variant involving the WAC gene (SNV, CNV, SV). Main non-inclusion 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 endpoint: The data collected will enable the investigators to meet the objective, namely to expand clinical and paraclinical knowledge of DeSanto-Shinawi syndrome. Main secondary endpoints: NA (descriptive study) Statistics: NA (descriptive study)
Interventions
None listed
Sponsors
University Hospital, Clermont-Ferrand
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
| Paraclinical knowledge | Through study completion, an average of 2 years | Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Recurrence of clinical signs | Through study completion, an average of 2 years | Inventory the clinical signs of the syndrome described to date and mesure concordance or not |
| Standardized examinations | Through study completion, an average of 2 years | Using concordance of signs, mesure the clinical and paraclinical necessary at diagnosis |
| Management & Follow-up | Through study completion, an average of 2 years | Using concordance of signs at different ages, establish appropriate management and follow-up. |
| Genotype phenotype correlation | Through study completion, an average of 2 years | Compare the phenotype of DESSH patients with pathogenic point variation in the WAC gene and those with microdeletion involving the WAC gene |
Countries
France
Contacts
Primary ContactLise LACLAUTRE
Outcome results
None listed