Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
Malan syndrome is an ultra-rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients. This report further establishes the common characteristics of Malan syndrome, expands the ophthalmologic features and airway distress phenotypes, and provides updated management recommendations.
Authors
- Christal G. Delagrammatikas (ORCID: https://orcid.org/0009-0000-0026-8734)
- Kosuke Izumi (ORCID: https://orcid.org/0000-0002-7922-7480)
- Jennifer M. Kalish (ORCID: https://orcid.org/0000-0003-1500-9713)
- G. T. Liu
- Alex F. Nisbet (ORCID: https://orcid.org/0000-0002-4083-7230)
- Winifred Sigal (ORCID: https://orcid.org/0000-0003-4688-5791)
- K. Ventarola
- Julia Reid
- Zoe S. Katz
- Elaine H. Zackai
- Sylvie A. Adams
Institutions
- Children's Hospital of Philadelphia (US)
- Rome Foundation (US)
- University of Pennsylvania (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2026-04-03
- DOI
- https://doi.org/10.1002/ajmg.a.70147
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00