Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

Eur J Pediatr. 1993 Mar;152(3):211-7. doi: 10.1007/BF01956147.


Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Body Height
  • Cause of Death
  • Exostoses, Multiple Hereditary / ethnology
  • Exostoses, Multiple Hereditary / physiopathology*
  • Female
  • Finland / ethnology
  • Growth
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype