Chondrodysplasia punctata

The term chondrodysplasia punctata, a group of hereditary diseases is summarized, to punctate calcifications ( calcification ) of cartilage in the joints, larynx (voice box ) and trachea (trachea ) lead. Other symptoms include Dysproportionierter short stature with short limbs, keratinization of the skin, cataracts, and dysmorphic features ( hypoplastic nasal root ).

The group includes:

• Conradi - Hünermann syndrome: X- linked dominant inherited defect of the EBP gene ( enzyme involved in cholesterol metabolism )
• Chondrodysplasia with Brachytelephalangie: X- linked recessive gene defect in the ARSE gene; a phenocopy of this disease is the warfarin syndrome and coumarin embryopathy
• Rhizomelic Chondrodyplasia punctata type 1 ( RCDP 1), caused by mutations in the gene for the peroxisomal transport protein peroxin -7 on chromosome 6, recessive inheritance
• Tibial - metacarpal Chondrodyplasia punctata

Radiologically, calcifications only up to the age of 3-5 years are detectable later on growth delays or disruptions in the foreground.

Must be differentiated cartilage calcifications from other causes.