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

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

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)

Abstract

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 caused by autosomal recessive variants in DCHS1 as well, and HS can also be caused by autosomal recessive variants in CCBE1 and ADAMTS3. Here we report two siblings with VMS and one girl with HS, all with FAT4 variants, and provide an overview of the clinical findings in all patients reported with FAT4 variants. Our comparison of the complete phenotypes of patients with VMS and HS indicates a resemblance of several signs, but differences in several other main signs and symptoms, each of marked importance for affected individuals.
Original languageEnglish
Pages (from-to)1166-1174
JournalAmerican Journal of Medical Genetics. Part A
Volume176
Issue number5
DOIs
Publication statusPublished - 2018

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