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ENRhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly (SKPHA)
Alias:
Regressive Spondylometaphyseal Dysplasia
Pelger-Huet Anomaly with Mild Skeletal Anomalies
Skpha
Phask
Rhizomelic Skeletal Dysplasia Without Pelger-Huet Anomaly
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Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly, also known as regressive spondylometaphyseal dysplasia, is related to pelger-huet anomaly and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly is LBR (Lamin B Receptor). Affiliated tissues include bone and neutrophil, and related phenotypes are hyperlordosis and genu valgum
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MALACARDS
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