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

## TL;DR

This study compiles data on dysmorphisms in 374 inherited metabolic diseases, categorizing them by body parts and offering clinical insights for healthcare professionals.

## Contribution

The paper provides a comprehensive catalog of dysmorphic features across 374 inherited metabolic disorders, categorized by organ systems.

## Key findings

- Dysmorphisms vary in frequency and severity among individuals with inherited metabolic disorders.
- The study lists 374 IMDs with dysmorphic characteristics, categorized by affected organs.
- The data includes clinical features and diagnostic strategies for healthcare professionals.

## 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 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.