Wiedemann-Steiner Syndrome (WDSTS)

Alias:

Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome

Wdsts

Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay

Hairy Elbows Short Stature Facial Dysmorphism and Developmental Delay

Hypertrichosis Cubiti Facial Dysmorphism and Developmental Delay

Growth Deficiency and Mental Retardation with Facial Dysmorphism

Kmt2a-Related Neurodevelopmental Disorder

Wiedemann Grosse Dibbern Syndrome

Wss

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Wiedemann-Steiner Syndrome, also known as hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome, is related to kabuki syndrome 1 and hypertrichosis. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are DNA IR-double strand breaks and cellular response via ATM and Retinoblastoma gene in cancer. Affiliated tissues include eye and bone, and related phenotypes are delayed speech and language development and dysphagia

Related ID：

MALACARDS：WDM004

OMIM：605130

MESH：D006983