Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

Genet Couns. 2005;16(1):101-5.


We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / complications*
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Cerebellum / abnormalities*
  • Face / abnormalities*
  • Foot Deformities, Congenital / complications
  • Foot Deformities, Congenital / diagnostic imaging
  • Genetic Variation / genetics*
  • Hamartoma / complications*
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / diagnostic imaging
  • Humans
  • Hypothalamus* / pathology
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Orofaciodigital Syndromes / complications*
  • Orofaciodigital Syndromes / genetics*
  • Orofaciodigital Syndromes / pathology
  • Polydactyly / complications*
  • Polydactyly / diagnosis
  • Polydactyly / genetics*
  • Tomography, X-Ray Computed