En heterogen grupp av skelettdysplasier, kännetecknade av punktering av epifyserna hos barn. I gruppen ingår en allvarlig, autosomalt recessiv form, rizomelisk kondrodysplasi, en autosomalt dominant f orm, Conradi-Hunermansyndromet, och en lindrigare, X-bunden form. Ämnesomsättningsdefekter i association med försämrade peroxisomer förekommer endast i den rizomeliska formen.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
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Stippled Epiphyses — Epiphyses, Stippled — Chondrodystrophia Calcificans Congenita — Dysplasia Epiphysialis Punctata — Hunermann-Conradi Syndrome — Hunermann Conradi Syndrome — Conradi-Hunermann Syndrome — Conradi Hunermann Syndrome — Conradi Hunermann Happle Syndrome — Happle Syndrome — X-Linked Dominant Chondrodysplasia Punctata — X Linked Dominant Chondrodysplasia Punctata — X-Linked Chondrodysplasia Punctata 2 — X Linked Chondrodysplasia Punctata 2 — Chondrodysplasia Punctata 2, X-Linked — Chondrodysplasia Punctata 2, X Linked — Conradi-Hünermann Syndrome — Conradi Hünermann Syndrome — Conradi-Hünermann Syndromes — Conradi-Hünermann-Happle Syndrome — Conradi Hünermann Happle Syndrome — Conradi-Hünermann-Happle Syndromes — Chondrodysplasia Punctata 2, X-Linked Dominant — Chondrodysplasia Punctata 2, X Linked Dominant — Conradi-Hunermann-Happle Syndrome — Conradi-Hunermann-Happle Syndromes