Wiedemann-Steiner syndrome
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.
MONDO:0000508
syndromic intellectual disability
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MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
A syndrome of abnormal facies, short stature, and psychomotor retardation
related
WDSTS
related
Wiedemann Grosse Dibbern syndrome
related
Wiedemann-Steiner syndrome
exact
hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
exact