Sensenbrenner Syndrome
Conditions
Keywords
Sensenbrenner Syndrome, phenotypic analysis, craniofacial characteristics
Brief summary
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare autosomal-recessive disorder belonging to the ciliopathy group of diseases. It is characterized by a facial dysmorphism, abnormal bone development and ectodermal defects including dental anomalies. CED is a heterogeneous condition with significant phenotypic and molecular variability, whose spectrum may include cases of renal impairment, hepatic fibrosis, retinitis pigmentosa and/or brain anomalies. In many cases, patients develop chronic kidney disease (CKD) due to nephronophthisis between 2 and 6 years of age. The aim of this retrospective study is to better understand the characteristics of this syndrome and to find prognostic factors of CKD. We make the hypothesis that an early diagnosis of the syndrome would lead to a better global management of patients (quality of life, delayed onset of end-stage renal disease).
Interventions
OTHERMedical Data Collect
It is a retrospective clinical study and we will collect only the medical data registered in our hospital software
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to 13 Years
Healthy volunteers
No
Inclusion criteria
* Boys and girls. * Aged 3 to 18 years old. * Subjects with a Sensenbrenner's syndrome diagnosis and followed from 2005 * Parents/ legal guardian must provide non opposition prior to participation in the study
Exclusion criteria
* Patients whose parents / legal guardian have object to using the data usually collected for care
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of renal impairment of 4 patients with Sensenbrenner identified with WDR19 and WDR35 mutations, through measurement of level of creatinine in the urine. | The result of Creatinine in children with Sensenbrenner syndrome will be collected though study completion an average of 1 year. | In many cases, patients with this syndrome develop chronic kidney disease (CKD) due to nephronophthisis between 2 and 6 years of age. Nephronophthisis is characterized by decreased urine concentration ability, chronic tubulointerstitial nephritis, cystic kidney disease and progression towards end-stage kidney disease (ESKD). In this study, we would analyze the renal phenotypes through the level of Creatinine in the urine to detect early-stage kidney disease. All the data will be collected from the patient medical records. |
Countries
France
Contacts
Primary ContactFederico DI ROCCO, Pr
Backup ContactJustine BACCHETTA, Pr
Outcome results
None listed