Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

Am J Med Genet. 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310.


Cerebellar anomalies are consistent findings in patients with the oral-facial-digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have a hypoplastic cerebellar vermis shown by magnetic resonance imaging (MRI), as well as clinical signs of cerebellar defect. Polydactyly of the hands is characterized by a central Y-shaped metacarpal. Clinically recurrent episodes of tachypnea and hyperpnea are remarkable. Postnatal growth is delayed with short stature in all 3 patients possibly due to growth hormone deficiency in one of them. In contrast to reported patients who are all severely mentally retarded, one of our patients is of normal intelligence. Type VI oral-facial-digital syndrome is an autosomal-recessive trait and may be detected prenatally.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics*
  • Female
  • Foot Deformities / diagnosis
  • Foot Deformities / genetics*
  • Genes, Recessive*
  • Hand Deformities / diagnosis
  • Hand Deformities / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Orofaciodigital Syndromes / genetics*
  • Syndrome