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

ABSTRACT: 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 r

SUBMITTER: Greene CL 

PROVIDER: S-EPMC11808525 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature