Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?

Am J Med Genet. 1993 Apr 15;46(2):176-9. doi: 10.1002/ajmg.1320460215.


We describe a boy with short stature, developmental delay, unusual face, right iris coloboma, malformed ears, micrognathia, and skeletal anomalies including hyperphalangy of the index fingers, bilateral fifth finger clinodactyly, short halluces, and scoliosis. Internal anomalies included asymmetric and dilated cerebral ventricles and ventricular septal defect. The neonatal history of small jaw with feeding and respiratory difficulties suggested a Pierre Robin sequence, but there was no cleft palate. Two maternal uncles with similar anomalies had died at ages 13 months and 5 years, respectively. RFLP studies with the DNA probes DXS72 and F8C were consistent with but not diagnostic of X-linked recessive inheritance. The pattern of anomalies was compatible with a diagnosis of Catel-Manzke syndrome, but a novel dysostosis syndrome must also be considered.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Fingers / abnormalities*
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Micrognathism / genetics
  • Pedigree
  • Pierre Robin Syndrome / diagnosis
  • Syndrome
  • X Chromosome


  • Genetic Markers