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Article

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

American journal of medical genetics. Part A - 1 May 2018

Ivanovski Ivan, Akbaroghli Susan, Pollazzon Marzia, Gelmini Chiara, Caraffi Stefano Giuseppe, Mansouri Mahboubeh, Chavoshzadeh Zahra, Rosato Simonetta, Polizzi Valeria, Gargano Giancarlo, Alders Marielle, Garavelli Livia, Hennekam Raoul C

Abstract excerpt

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be...

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Source

Identifiers

PMID: 29681106
DOI: 10.1002/ajmg.a.38652

Genes

FAT4
ADAMTS3
CCBE1
DCHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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