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chondrodysplasia punctata

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).

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-H√ľnermann 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)

References

- 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

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