Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


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PMID (PMCID)
25439727
 MIXED_SAMPLE
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.
Am J Hum Genet. 2014;95(5):602-10.
Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and seizures.