Timeline of Amelogenesis Imperfecta Management.

Amelogenesis imperfecta is a heterogeneous group of >100 different rare diseases. Affected individuals and families are facing diagnostic uncertainty and wandering and a therapeutic odyssey. Continuous multidisciplinary management from childhood to adulthood is essential, emphasizing the critical role of health care professionals.

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).

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Miller syndrome is an extremely rare condition in the group of facial dysostosis syndromes. These syndromes have great phenotypic overlap and variability, even within families. To facilitate the differentiation of Miller syndrome from related facial dysostosis syndromes, such as Treacher Collins and Nager syndrome, this study aims to provide an overview of the phenotypic spectrum of the syndrome.

From Fusion to Function: Clinical Insights and Therapeutic Strategies in Syngnathia.

Background: Syngnathia is a very rare craniofacial anomaly, referring to different forms of fusion of the upper and lower jaw, with or without involvement of the temporomandibular joint (TMJ). Due to its rarity, limited knowledge is available about the clinical manifestation and, in specific, about treatment strategies. The aim of the study is to map out the clinical manifestation and the currently used treatment options by collecting information systematically in a case series.

Hearing Loss in 5-Year-Old and 12-Year-Old Patients With a Cleft Palate and Evaluating Standardized Assessment Methods.

This study describes the results of hearing assessment in patients with cleft palate with or without cleft lip (CP±L) enrolled in the International Consortium for Health Outcome Measures set for cleft lip and palate (ICHOM set). Other cleft initiatives were examined to provide an overview of the hearing assessment used. Data were analyzed from 390 patients with CP±L, aged 5 or 12 years, who were followed up according to the ICHOM set between 2016 and 2023.

Normative CLEFT-Q Data From the General Dutch Population.

Patient-Reported Outcome Measures (PROMs), such as the CLEFT-Q, have become essential for outcomes in patients with CL/P. Normative values of the CLEFT-Q for non-CL/P peers have not yet been established. This study aims to establish normative values for the CLEFT-Q in the general Dutch population.

The Development of a European Multidisciplinary Cleft Lip and Palate Registry by the European Reference Network CRANIO: Experiences, Barriers, And Facilitators.

The European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders aims to improve care for patients with such afflictions, including cleft lip and palate (CL/P) across Europe. Cleft treatment remains varied throughout European centers, inhibiting meaningful comparison of treatment outcomes. To overcome these issues, a European-wide common CL/P dataset and registry was developed, facilitating standardized treatment endpoints and outcome measures for international comparison and benchmarking of CL/P centers.

What is the optimal assessment of speech? A multicentre, international evaluation of speech assessment in 2500 patients with a cleft.

Objectives: Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, including measures of speech assessment.

Most Efficient and Meaningful Patient-Reported Appearance Assessment in Different Cleft Types and Age Groups with CLEFT-Q.

Background: The CLEFT-Q, a questionnaire developed and validated specifically for cleft patients, contains seven appearance scales. The International Consortium of Health Outcomes Measurement (ICHOM) has incorporated only some CLEFT-Q appearance scales in the Standard Set to minimize burden. This study evaluates which appearance scales provide the most meaningful information in the different cleft types at specific ages, for the most efficient cleft appearance outcome assessment.