Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

Am J Med Genet. 1994 Feb 1;49(3):278-80. doi: 10.1002/ajmg.1320490307.


Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Aged
  • Diagnosis, Differential
  • Female
  • Fingers / abnormalities*
  • Genes, Dominant
  • Hair / abnormalities*
  • Humans
  • Infant
  • Male
  • Nose / abnormalities*
  • Pedigree
  • Syndrome
  • Toes / abnormalities*