/Wiedemann-Steiner syndrome

Wiedemann-Steiner syndrome

Rare Disease

MONDO:0011518

Also Known As

Wiedemann-Steiner syndromehypertrichosis-short stature-facial dysmorphism-developmental delay syndromeA syndrome of abnormal facies, short stature, and psychomotor retardationWDSTSWiedemann Grosse Dibbern syndromehairy elbows, short stature, Facial Dysmorphism, and developmental delay

Definition

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.