rhizomelic chondrodysplasia punctata type 3

A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.

Signs and symptoms

• Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts
• Rhizomelia
• Failure to thrive
• Short femur
• Short humerus
• Disproportionate short-limb short stature
• Epiphyseal stippling

Also known as: AGPS deficiency; Alkyldihydroxyacetonephosphate Synthase Deficiency; Alkylglycerone-Phosphate Synthase Deficiency; RCDP3