Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature and other skeletal anomalies with or without abnormal blood granulocyte nuclear shape. SKPHA has been linked to homozygous mutations or compound heterozygous mutations in LBR.
