Friday 14 January 2005
Chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones.
X-linked dominant CPD (CPXD), also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD.
There are 2 brachytelephalangic forms of CPD:
an X-linked recessive form (CPDX1; MIM.302950), caused by mutation in the ARSE gene (300180);
a possible autosomal form (BCDP; MIM.602497).
There is also an autosomal dominant tibia-metacarpal type (MIM.118651).
In addition, CPD can be caused by maternal vitamin K deficiency or warfarin teratogenicity (MIM.118650).
stippled epiphyseal calcification (epiphyseal stippling)
depressed nasal bridge
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 chondrodysplasia punctata
- 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 dominant 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)
Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature. Pediatr Dev Pathol. 2007 Mar-Apr;10(2):142-8. PMID: 17378690