Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia

Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23.


In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition.

Keywords: alopecia; atrichia; ectodermal dysplasia; intellectual disability; microcephaly; syndactyly; synostosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Alopecia / diagnosis
  • Child, Preschool
  • Ectodermal Dysplasia / diagnosis
  • Facies
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Microcephaly / diagnostic imaging*
  • Radiography
  • Syndactyly / diagnostic imaging
  • Syndrome