Chondrodysplasia Punctata
MESHD002806
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.
Synonyms
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
- Epiphyses, Stippled
- Stippled Epiphyses
- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Conradi Hunermann Happle Syndrome
- Happle Syndrome
- Conradi-Hunermann-Happle Syndrome
- Conradi-Hunermann-Happle Syndromes
- 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
- X-Linked Dominant Chondrodysplasia Punctata
- X Linked Dominant Chondrodysplasia Punctata
Source last updated 2026-05-24T15:28:01.396Z