Chondrodystrophia Calcificans

Preferable to Conradi or Conradi – Hunermann Syndrome lables is Chondrodystrophia Calcificans Congenita Epiphysiales Punctata or in medical parlance, Stippled Epiphysial Dysplasia. The signs that signal this diagnosis include: rhyzomelia (shortening of the proximal ends of long bones), in particular the humerus; cataracts, optic atrophy, macrocephaly, saddle nose, craniostenosis with frontal prominence and a large fontanelle, dwarfism, contractures, scoliosis, coarse hair, and alopecia, etc.

This rare autosomal recessive disorder is clinically perplexing, associated with a variety of proposed molecular genetic anomalies.

Most patients are female, males rarely survive. Note the illustrated defficient male genitals.

CREDIT: The images and clinical profile are mostly adapted from “Atlas of Mental Retardation Syndromes” by U.S. Department of Health, Education, and Welfare. 1968 (0-310-072 U.S. Government Printing Office), edited by S. S. Gellis, M.D. and M. Finegold, M.D.

Tags: dxConradi