Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome)

Am J Med Genet. 1994 Jun 1;51(2):131-6. doi: 10.1002/ajmg.1320510209.


Oral-facial-digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy-Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Genes, Recessive
  • Hamartoma / complications
  • Hamartoma / genetics*
  • Humans
  • Hypothalamic Diseases / complications
  • Hypothalamic Diseases / genetics*
  • Infant, Newborn
  • Male
  • Orofaciodigital Syndromes / genetics*
  • Puberty, Precocious / etiology*