Yunis-Varon syndrome: Further delineation of the phenotype

Lina Basel-Vanagaite*, Liora Kornreich, Ofer Schiller, Joanne Yacobovich, Paul Merlob

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings, including hydrops fetalis, primary pulmonary hypertension and unusually severe abnormalities of toes. We review clinical data on 22 published cases in order to delineate the phenotype of this condition. Clinical recommendations for prenatal and postnatal evaluation of patients and fetuses at risk are discussed.

Original languageEnglish
Pages (from-to)532-537
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - 15 Feb 2008


  • Hydrops fetalis
  • Limb defects
  • Primary pulmonary hypertension
  • Yunis-Varon syndrome


Dive into the research topics of 'Yunis-Varon syndrome: Further delineation of the phenotype'. Together they form a unique fingerprint.

Cite this