Synopsis

 stippled epiphyseal calcification (epiphyseal stippling)
 dwarfism
 flat facies
 depressed nasal bridge
 cataract
 short neck
 flexion contracture
 foot deformation
 ichtyosiform dermatitis

Clinical types

 Greenberg dysplasia
 dappled diaphysis dysplasia
 rhizomelic type chondrodysplasia punctata
 autosomal dominant forms of chondrodysplasia punctata (Conradi-Hünermann type chondrodysplasia punctata) (MIM.118650)
 tibial-metacarpal type chondrodysplasia punctata
 brachytelephalangic type chondrodysplasia punctata
 autosomal recessive forms of chondrodysplasia punctata (M(MIM.215100)
 X-linked dominant forms (MIM.302960)

• X-linked recessive chondrodysplasia punctata type 1 (CDPX1) (brachytelephalangic chondrodysplasia punctata) (MIM.302950)
  • germline mutation in the arylsulfatase E gene (ARSE) (MIM.300180)

• X-linked recessive chondrodysplasia punctata type 2 (CDPX2) (Conradi-Hunnermann syndrome, Happle syndrome) (MIM.302960)
  • germline mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP) (MIM.300205)