Number of the records: 1  

chondrodysplasia punctata

  1. Record numberd002806
    Date06.06.2025
    TypeM - MESH
    Topical termchondrodysplasia punctata
    Other termEnglish (Pseudonym) Chondrodystrophia Calcificans Congenita
    English (Pseudonym) Conradi-Hunermann Syndrome
    English (Pseudonym) Dysplasia Epiphysialis Punctata
    English (Pseudonym) Epiphyses, Stippled
    English (Pseudonym) Stippled Epiphyses
    Slovak (Pseudonym) chondrodysplázia kalcifikovaná kongenitálna
    Slovak (Pseudonym) Conradiho-Hünermanov syndróm
    Slovak (Pseudonym) dysplasia epiphysialis punctata
    Slovak (Pseudonym) chondrodysplasia calcificans congenita
    UDCC05.116.099.708.195
    NoteA 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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Number of the records: 1  

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