CDPX2
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X-linked dominant chondrodysplasia punctata type 2
Macroscopical synopsis
systemic anomalies
- failure to thrive (early infancy)
- mild-to-moderate growth deficiency
- polyhydramnios
- hydrops
craniofacial anomalies
- flat facies
- hypoplasia of malar eminences
- frontal bossing
- dysplastic ears
- hearing loss
- short neck
ocular anomalies
- down-slanting palpebral fissures
- cataract
- nystagmus
- microphthalmia
- glaucoma
visceral anomalies
- tracheal calcifications
- tracheal stenosis
- hydronephrosis
trunk anomalies
- punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula
- scoliosis
- hemivertebrae
- vertebral calcifications
- calcific deposits of ischium and pubis
limb anomalies
- asymmetric limb shortening
- epiphyseal stippling
- dislocation of patella
- punctate calcifications of carpals
- bilateral club feet
- punctate calcifications of tarsals
cutaneous anomalies
- congenital ichthyosiform erythroderma
- follicular atrophoderma
- ?orange peel? skin (large pores)
- ichthyosis
- coarse, sparse hair
- patchy areas of alopecia
- sparse eyebrows
- sparse eyelashes
cerebrospinal anomalies
Biochemical anomalies
elevated 8(9)-cholestenol
elevated 8-dehydrocholesterol
Etiology
mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP) (MIM.300205)