European Journal of Pediatrics

, Volume 134, Issue 1, pp 27–33

The CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
  • R. Happle
  • H. Koch
  • W. Lenz
Original Investigations

DOI: 10.1007/BF00442399

Cite this article as:
Happle, R., Koch, H. & Lenz, W. Eur J Pediatr (1980) 134: 27. doi:10.1007/BF00442399


The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of some fingers to complete absence of an extremity. In addition, ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera are found. In some cases, ipsilateral punctate epiphyseal calcifications have been observed.

Two further cases of this syndrome are reported, and a review of 18 previous observations is presented. The ratio of females to males is 19:1. Apparently, the CHILD syndrome is genetically determined. Arguments are presented in favor of the hypothesis that the condition is due to an X-linked dominant gene lethal in hemizygous males.

Key words

CHILD syndrome Congenital hemidysplasia Skin defect Ichthyosiform erythroderma Skeletal defects Punctate epiphyseal calcifications Neurological defects Cardiac defects Renal defects X-chromosome dominant inheritance 

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • R. Happle
    • 1
  • H. Koch
    • 2
  • W. Lenz
    • 3
  1. 1.Department of DermatologyUniversity of MünsterMünsterFederal Republic of Germany
  2. 2.Department of Pediatrics, St.Marien-HospitalVechta
  3. 3.Department of Human GeneticsUniversity of MünsterFederal Republic of Germany
  4. 4.Universitäts-HautklinikMünsterFederal Republic of Germany

Personalised recommendations