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.
Children and adults of any age.
Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).
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.
Patients of any age with a molecular and clinical diagnosis of DeSanto-Shinawi Syndrome.
Cohort
Retrospective
Not listed
Clinical knowledge
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
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
Height, weight and head circumferance at birth and at last visit
Paraclinical knowledge
Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD
Recurrence of clinical signs
Inventory the clinical signs of the syndrome described to date and mesure concordance or not
Standardized examinations
Using concordance of signs, mesure the clinical and paraclinical necessary at diagnosis
Management & Follow-up
Using concordance of signs at different ages, establish appropriate management and follow-up.
Genotype phenotype correlation
Compare the phenotype of DESSH patients with pathogenic point variation in the WAC gene and those with microdeletion involving the WAC gene
Click on the lead sponsor to view all of their trials.
