En autosomalt recessiv form av chondrodysplasia punctata, kännetecknad av defekt plasmalogenbiosyntes och skadade peroxisomer. De drabbade har förkortade proximala lemmar och svåra störningar i den en dokondrala benbildningen. Ämnesomsättningsstörningar till följd av skade peroxisomer ses endast i den rizomeliska formen av kondrodysplasi.
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Inga svenska synonymer finns.
Chondrodysplasia Punctatas, Rhizomelic — Punctata, Rhizomelic Chondrodysplasia — Punctatas, Rhizomelic Chondrodysplasia — Rhizomelic Chondrodysplasia Punctatas — Chondrodysplasia Punctata, Rhizomelic Form — Rhizomelic Chondrodysplasia Punctata