Judith Goslin Hall

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before birth. Missed or late diagnosis limits opportunities for informed counseling, optimal delivery planning, and early postnatal intervention. In this overview, we summarize current knowledge on prenatal detection of AMC, drawing on international cohort studies, registry data, literature on fetal motor assessment, and patient‐reported experiences. We highlight the added value of systematic evaluation of fetal movements in addition to repeated structural anomaly scans, the role of multidisciplinary care pathways, and the importance of phenotypic classification (AMC Groups 1–3) for prognosis and counseling. We also review current and emerging genetic testing strategies, including exome‐ and genome‐based approaches, and their diagnostic yield in fetuses with contractures. Finally, we outline future perspectives for international collaboration, standardized data collection from fetus to adulthood, and research priorities with patient support organizations. Together, these efforts aim to improve awareness, earlier recognition, and more tailored counseling for parents confronted with contractures and the possibility of diagnosing AMC during their pregnancies.

Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development. AMC requires lifelong, multidisciplinary management, a challenge compounded by their rarity and phenotypic heterogeneity. Our understanding of AMC is hampered by diagnostic delays, scarce trained specialists, and variable clinician expertise. Research networks are paramount to harmonize efforts, increase awareness, and accelerate progress toward understanding of rare conditions. Therefore, we established a consortium for AMC (IC4AMC) in 2020, a multi‐national network dedicated to improving AMC care, research, and knowledge across North America, Europe, and West Asia. IC4AMC engages a diverse group of stakeholders including clinicians, researchers, individuals with AMC, families, and support groups to better understand and address the most pressing needs in AMC care and research. In this paper, we introduced the missions and aims of the IC4AMC around four pillars of early detection, clinical care, research, and education, all embedded in two cross‐cutting principles of knowledge mobilization and community engagement. This effort will inform the development of targeted initiatives aimed at improving outcomes for rare diseases.

Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.

Clinical Medicine is an Art which is learned, together with hard work, as an apprentice—observing how a master works, and improving with experience and exposure. Clinicians are performing multiple things at the same time—trying to make a diagnosis, providing best therapies and preventative strategies, and looking for the underlying mechanism(s). Families want to know what to expect over time—the natural history of their disorder. Rare disease networks and parent support groups are helping in this effort. Information technologies and international collaborative efforts are changing the way clinical genetics is provided.

Indigenous Art often expresses the complex culture of their creators and provides insight into the origins, histories, and values of that culture. Two examples of Northwest Indigenous Art suggest deeper meanings and the “power” of congenital anomalies.

Monozygotic (MZ) twins (“identical twins”) are essentially unique to human beings. Why and how they arise is not known. This article reviews the possible different types of MZ twinning recognized in the previous article on twins and arthrogryposis. There appear to be at least three subgroups of MZ twinning: spontaneous, familial, and those related to artificial reproductive technologies. Each is likely to have different etiologies and different secondary findings. Spontaneous MZ twinning may relate to “overripe ova.” Amyoplasia, a specific nongenetic form of arthrogryposis, appears to occur in spontaneous MZ twinning and may be related to twin–twin transfusion.