Overlap syndrome: a diagnostic dilemma

BMJ Case Rep. 2012 Nov 27:2012:bcr-2012-007458. doi: 10.1136/bcr-2012-007458.


We report an interesting case of a young patient who came with a concern for missing teeth and lack of hair on scalp and body. Examination revealed complete absence of teeth, absence of eyebrows, eyelashes and hair over scalp. He was short-statured, had hyperextensible joints and hyperelastic skin, protuberant lips and many other anomalies such that the overall pattern of defects was not recognisable. A wide array of investigations involving the dental and medical faculties were done; however, the final diagnosis could not be reached, since it appeared to involve features of more than one syndrome, thus the name 'overlap syndrome'.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Alopecia / diagnosis*
  • Alopecia / genetics
  • Consanguinity
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Diagnosis, Differential
  • Dwarfism / diagnosis*
  • Dwarfism / genetics
  • Eyebrows / abnormalities*
  • Humans
  • Joint Instability / diagnosis*
  • Joint Instability / genetics
  • Male
  • Mouth, Edentulous / diagnosis*
  • Mouth, Edentulous / genetics
  • Radiography, Panoramic
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics
  • Syndrome
  • Tooth, Unerupted / diagnosis
  • Tooth, Unerupted / genetics
  • Young Adult