chondrodysplasia punctata
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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-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)
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