GROWing Up With Rare GENEtic Syndromes

  • End date
    Jan 1, 2030
  • participants needed
  • sponsor
    dr. Laura C. G. de Graaff-Herder
Updated on 9 February 2021
diagnostic tests
genetic disorder
intellectual disability
rare diseases
congenital disorders


GROWing Up With Rare GENEtic Syndromes: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.

Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.

Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.

The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:

  1. comorbidities
  2. medical and their impact on quality of life
  3. medication use
  4. the need for adaption of medication dose according to each syndrome

Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

Condition Prader-Willi Syndrome, Noonan Syndrome, Male Pseudohermaphroditism, Tuberous Sclerosis, Neurofibromatosis, Neurofibromatosis, Hermaphroditism, Rett Syndrome, Cornelia De Lange Syndrome, Kallmann's Syndrome, CHARGE Syndrome, CONNECTIVE TISSUE DISEASE, Connective Tissue Diseases, Dermatomyositis (Connective Tissue Disease), Congenital adrenal hyperplasia, Congenital adrenal hyperplasia, Hypogonadism, Hypogonadism, Klinefelter's Syndrome, Congenital Heart Defect, Congenital Heart Disease, Heart Defect, NF1 gene, Williams Syndrome, Williams Syndrome, Hereditary Neoplastic Syndrome, Hereditary Cancer Syndromes, Bardet-Biedl Syndrome, Obesity, Obesity, DiGeorge Syndrome, Turner's Syndrome, Turner Syndrome, Saethre-Chotzen Syndrome, Hypoparathyroidism, Hypoparathyroidism, 22q11 Deletion Syndrome, Congenital Heart Disease, Dermatomyositis (Connective Tissue Disease), Xxyy Syndrome, Xxxx Syndrome, Connective Tissue Diseases, Turner Syndrome, Heart Defect, Hereditary Cancer Syndromes, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism, Albright Hereditaire Osteodystrofie, 17p- Deletiesyndrome, POLR3A Mutatie, Ohdo Syndrome, Jacobsen Syndrome / 11 q Syndrome, Myrhe Syndrome, 1q25-32 Deletie, Allan-Herndon-Dudley Syndrome, Rare Bone Disorders, disorders of sex development, hypogonadotropic hypogonadism, klinefelter syndrome, kallmann syndrome, pringle, sclerosis, cerebral, bourneville's disease, PWS-like Syndrome, 17p- Deletiesyndrome, Jacobsen Syndrome / 11 q Syndrome, 1q25-32 Deletie, Allan-Herndon-Dudley Syndrome
Treatment Retrospective file studies
Clinical Study IdentifierNCT04463316
Sponsordr. Laura C. G. de Graaff-Herder
Last Modified on9 February 2021


Yes No Not Sure

Inclusion Criteria

Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center

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