2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Novel Skeletal Anomalies with <em>KMT2A</em> Pathogenic Variants: Expanding the Phenotypic Features of Wiedemann Steiner Syndrome

Novel Skeletal Anomalies with KMT2A Pathogenic Variants: Expanding the Phenotypic Features of Wiedemann Steiner Syndrome

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Pdf Summary

Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder caused by a specific gene variant in the KMT2A gene. This disorder is inherited in an autosomal dominant pattern and often occurs spontaneously. WSS is characterized by a variety of physical and developmental abnormalities, including intellectual disability, short stature, skeletal anomalies, and facial dysmorphology. <br /><br />A case study of a 14-year-old patient with WSS revealed several notable findings, including dental anomalies, large hands and feet, bilateral elbow contractures, and thoracolumbar scoliosis. Another case study of a 2-year-old patient with WSS presented with short stature, facial dysmorphisms, bilateral elbow contractures, and delayed ossification of the capitellum.<br /><br />The aim of the report is to expand the understanding of the skeletal abnormalities associated with WSS. Previous reports have identified short stature, hand anomalies, sacral dimple, scoliosis, craniovertebral anomalies, and abnormal bone age as common skeletal features of WSS. However, this report highlights additional skeletal anomalies not previously associated with WSS, including elbow contractures, rib anomalies, and clubfoot. <br /><br />WSS belongs to a class of disorders known as chromatinopathies, which are characterized by gene mutations that affect chromatin modification and gene expression. Other chromatinopathies, such as Cornelia de Lange, Kabuki, KBG, and Rubinstein-Taybi syndrome, also exhibit skeletal anomalies. The skeletal abnormalities found in these disorders differ from those in WSS.<br /><br />Overall, this report provides valuable insights into the skeletal features of Wiedemann-Steiner Syndrome, expanding the knowledge of this rare disorder and facilitating early recognition and treatment.

Asset Subtitle

Presenting Author - Tiayrra Kirkwood, BA; Co-Author - Lea K. Parsley, MD, FAAP, FACMG;

Meta Tag

Bone/Joint Abnormalities

Cognitive Disorders

Congenital Anomaly

Dysmorphology

Genotype-Phenotype Correlations

Intellectual disability

Musculoskeletal system

Phenotype

Co-Author Lea K. Parsley, MD, FAAP, FACMG

Presenting Author Tiayrra Kirkwood, BA

Keywords

Wiedemann-Steiner Syndrome

genetic disorder

KMT2A gene

autosomal dominant

intellectual disability

short stature

skeletal anomalies

facial dysmorphology

elbow contractures

scoliosis