Abstract
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann-Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann-Steiner syndrome is important for families of affected individuals.
Keywords:
KMT2A; Wiedemann-Steiner syndrome; hypertrichosis; hypertrichosis cubiti; lysine methyltransferase.
© 2018 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / physiopathology
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Adolescent
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Adult
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Child
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Child, Preschool
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Contracture / genetics*
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Contracture / physiopathology
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Developmental Disabilities / genetics*
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Developmental Disabilities / physiopathology
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Disease Progression
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Facies
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Female
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Growth Disorders / genetics*
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Growth Disorders / physiopathology
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Histone-Lysine N-Methyltransferase / genetics*
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Humans
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Hypertrichosis / genetics*
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Hypertrichosis / physiopathology
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Infant
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Male
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Microcephaly / genetics*
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Microcephaly / physiopathology
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Musculoskeletal Abnormalities / genetics
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Musculoskeletal Abnormalities / physiopathology
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Myeloid-Lymphoid Leukemia Protein / genetics*
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Phenotype
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Young Adult
Substances
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KMT2A protein, human
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Myeloid-Lymphoid Leukemia Protein
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Histone-Lysine N-Methyltransferase
Supplementary concepts
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Growth Deficiency and Mental Retardation with Facial Dysmorphism