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Updated: Jul 10, 2026
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Status of the human malformation map: 2007
John C Carey1, David H Viskochil
1Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. john.carey@hsc.utah.edu
American Journal of Medical Genetics. Part A
|November 15, 2007
Summary
Significant progress has been made in identifying genes responsible for human congenital malformations and syndromes. A review of known loci and cloned genes reveals that 73% of cataloged conditions now have identified genetic causes.
Area of Science:
- Human Genetics
- Developmental Biology
- Medical Genetics
Background:
- Advances in human disease gene identification have paralleled progress in congenital malformation research.
- Mapping and identifying genes for congenital malformations and syndromes have seen considerable development.
- Previous work includes Smith's Recognizable Patterns of Human Malformation (6th ed., 2006).
Purpose of the Study:
- To present an updated map of known loci for human malformations.
- To tabulate cloned genes associated with congenital malformations and syndromes as of summer 2007.
- To provide a timely and informative update on the genetic basis of these conditions.
Main Methods:
- Literature review and data compilation.
- Cataloging of known loci for human malformations.
- Tabulation of cloned genes identified up to summer 2007.
Main Results:
- Identification of genes or loci has been achieved for 73% of conditions listed in Smith's Recognizable Patterns of Human Malformation.
- A comprehensive overview of current knowledge regarding the genetic underpinnings of congenital malformations is presented.
- The data reflects significant advancements in the field up to summer 2007.
Conclusions:
- The genetic basis of a large majority of recognized human malformations is increasingly understood.
- This updated map and gene tabulation serve as a valuable resource for researchers and clinicians.
- Continued genetic research is crucial for understanding the remaining unidentified causes of congenital malformations.
