GROWing Up With Rare GENEtic Syndromes

RecruitingOBSERVATIONAL
Enrollment

600

Participants

Timeline

Start Date

October 1, 2018

Primary Completion Date

January 1, 2030

Study Completion Date

January 1, 2030

Conditions
Prader-Willi SyndromePWS-like SyndromeSilver Russel SyndromeCongenital HypopituitarismKlinefelter (XXY-)SyndromeCongenital Adrenal HyperplasiaXXXXY SyndromeXXYY SyndromeXXXX Syndrome (Tetra-X Syndrome)Disorders of Sex DevelopmentTurner Syndrome46, XY DSDTuberous SclerosisNeurofibromatosisAlbright Hereditaire OsteodystrofieCornelia de Lange SyndromeSaethre-Chotzen Syndrome17p- DeletiesyndromeVCF SyndromePOLR3A MutatieOhdo SyndromeJacobsen Syndrome / 11 q SyndromeMyrhe SyndromeCHARGE Syndrome1q25-32 DeletieBardet Biedl SyndromeRett Syndrome22q11 Deletion SyndromeAllan-Herndon-Dudley SyndromeKallmann SyndromeRare Bone DisordersNoonan SyndromeWilliams-Beuren Syndrome
Interventions
DIAGNOSTIC_TEST

Retrospective file studies

No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.

Trial Locations (1)

3015 GD

RECRUITING

Erasmus Medical Center, Rotterdam

All Listed Sponsors
lead

dr. Laura C. G. de Graaff-Herder

OTHER