Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

Alex F. Nisbet; Sylvie A. Adams; Zoe S. Katz; Christal G. Delagrammatikas; Kosuke Izumi; Winifred Sigal; Kim Ventarola; Elaine H. Zackai; Julia E. Reid; Grant T. Liu; Jennifer M. Kalish

doi:10.1002/ajmg.a.70147

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

Alex F. Nisbet
, Sylvie A. Adams
, Zoe S. Katz
, Christal G. Delagrammatikas
, Kosuke Izumi
, Winifred Sigal
, Kim Ventarola
, Elaine H. Zackai
, Julia E. Reid
, Grant T. Liu
, Jennifer M. Kalish

Research output: Contribution to journal › Review article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	1783-1798
Number of pages	16
Journal	American Journal of Medical Genetics, Part A
Volume	200
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.70147
State	Published - Aug 2026

Keywords

Malan syndrome
central visual impairment
eustachian tube
optic nerve atrophy
overgrowth

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.70147

Cite this

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title = "Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature",

abstract = "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.",

keywords = "Malan syndrome, central visual impairment, eustachian tube, optic nerve atrophy, overgrowth",

author = "Nisbet, \{Alex F.\} and Adams, \{Sylvie A.\} and Katz, \{Zoe S.\} and Delagrammatikas, \{Christal G.\} and Kosuke Izumi and Winifred Sigal and Kim Ventarola and Zackai, \{Elaine H.\} and Reid, \{Julia E.\} and Liu, \{Grant T.\} and Kalish, \{Jennifer M.\}",

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doi = "10.1002/ajmg.a.70147",

language = "English (US)",

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AU - Nisbet, Alex F.

AU - Adams, Sylvie A.

AU - Katz, Zoe S.

AU - Delagrammatikas, Christal G.

AU - Izumi, Kosuke

AU - Sigal, Winifred

AU - Ventarola, Kim

AU - Zackai, Elaine H.

AU - Reid, Julia E.

AU - Liu, Grant T.

AU - Kalish, Jennifer M.

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N2 - 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.

AB - 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.

KW - Malan syndrome

KW - central visual impairment

KW - eustachian tube

KW - optic nerve atrophy

KW - overgrowth

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UR - https://www.scopus.com/pages/publications/105034861987#tab=citedBy

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M3 - Review article

C2 - 41930635

AN - SCOPUS:105034861987

SN - 1552-4825

VL - 200

SP - 1783

EP - 1798

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

Abstract

Keywords

ASJC Scopus subject areas

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