The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

Facial dysostosis syndromes (FDS) are rare congenital conditions that significantly impact facial function and appearance. At the time of this writing, standardised monitoring protocols for FDS are lacking, hampering research, and evidence-based care. Thus, a comprehensive dataset was developed within the European Reference Network for Rare and Complex Craniofacial Anomalies (ERN CRANIO).

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Objectives: This study aimed to determine healthcare needs and care use (provision of healthcare) in adults with Bardet-Biedl syndrome (BBS) and the associations between care use and physical functioning, health status outcomes and distress.

Design: Cross-sectional study.

Setting: Outpatient hospital visits.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Background: Bardet-Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants.

Methods: A cross-sectional study of 30 adults with BBS (15 males, 15 females, mean age 39.

Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

Craniosynostosis (CS) is a common congenital anomaly defined by premature fusion of one or more cranial sutures. Syndromic CS involves additional organ anomalies or neurocognitive deficits and accounts for 25%-30% of the cases. In a recent population-based study by our group, 84% of the syndromic CS cases had a genetically verified diagnosis after targeted analyses.