Related Experiment Video

Updated: Mar 24, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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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

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Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2

Sarah M Lyon1, Darrel Waggoner2, Sara Halbach2

  • 1Pritzker School of Medicine, University of Chicago.

Genes & Diseases
|March 12, 2016
PubMed

Insights

Partial deletions of chromosome 19p were identified in three children with craniosynostosis. This finding suggests new gene candidates for craniosynostosis and highlights the importance of genetic testing.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Developmental Biology

Background:

  • Craniosynostosis involves premature fusion of cranial sutures, leading to increased intracranial pressure and craniofacial issues.
  • Current treatment for craniosynostosis is exclusively surgical.
  • Craniosynostosis is linked to various genetic mutations and chromosomal abnormalities.

Purpose of the Study:

  • To investigate the genetic basis of craniosynostosis by examining chromosome 19p deletions.
  • To identify potential candidate genes contributing to craniosynostosis and associated phenotypes.

Main Methods:

  • Case study of three pediatric patients with partial deletions of chromosome 19p.
  • Analysis of gene rearrangements within the deleted regions.
  • Review of literature on genes associated with cranial development and related disorders.

Main Results:

  • Three cases of partial chromosome 19p deletion were described, two with syndromic craniosynostosis and one with metopic ridging.
  • Candidate genes implicated in osteoblast differentiation (CALR, DAND5) and osteoclast regulation (MORG1) were identified.
  • Genes associated with epilepsy (CACNA1A) and mental retardation (CC2D1A) may contribute to additional patient phenotypes.

Conclusions:

  • Partial deletions of chromosome 19p are associated with craniosynostosis.
  • CALR, DAND5, and MORG1 are potential candidate genes for abnormal cranial vault development.
  • Genetic testing is crucial for syndromic craniosynostosis cases to identify underlying genetic causes and associated features.

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