Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms

• Published in: Molecular genetics and metabolism 2024-12, Vol.144 (1), p.109001, Article 109001
• Main Authors: Greene, Carol L., Saenz-Ayala, Sofia, Strovel, Erin T., Rossignol, Francis, Ferreira, Carlos R., Blau, Nenad
• Format: Article
• Language: English
• Subjects: Dysmorphic features; IEM; IMD; Morphology
• ISSN: 1096-7192; 1096-7206; 1096-7206
• DOI: 10.1016/j.ymgme.2024.109001

Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders. The data presented in this study, which includes a detailed list of 374 IMDs with dysmorphic characteristics categorized by affected organs (such as head and face, nose, mouth and tongue, eye, ear, hands and feet, and others), as well as an overview of important clinical features and recommended diagnostic strategies, could be valuable for professionals in the field of healthcare. This information may be particularly useful for healthcare providers who treat individuals with metabolic disorders or those who care for individuals exhibiting dysmorphic features that could indicate the presence of an inherited metabolic disorder.