Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series

Giulia Pascolini*, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity-dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype–phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and ADNP defects.

Original languageEnglish
Article numbere63539
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 2024


  • ADNP
  • ADNP syndrome
  • Helsmoortel-van der Aa syndrome (HVDAS)
  • Italian case series
  • phenotype


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