Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Wiedemann-Steiner Syndrome
Main Features
Developmental delay/Intellectual disability
Hypotonia
Distinctive Facial Features
Eye Findings
Dysmorphisms
Downslanting Palpebral Fissures (74-94%)
Vertically narrow (short) palpebral fissures (72-80%)
Hypertelorism (77%)
Long eyelashes and thick eyebrows
Telecanthus and Epicanthus
Ptosis (16%)
Refractive errors (47%)
Strabismus (22%)
Amblyopia
Lacrimal duct fistuale and stenosis (9%)
Retinal anomalies (rare)
Microphthalmia (rare)
Other Findings
Failure to thrive
Short stature
Constipation
Heart defects
PDA, ASD
GU
renal calyceal dilation, uterine anomalies
Immune
Hypogammaglobulinemia and recurrent infections
Endocrine
Growth Hormone deficiency
Hypothyroidism
premature thelarche
Skeletal
Vertebral anomalies
accelerated skeletal maturation, hypdysplasia brachydactyly, clinodactyly
CNS
Seizures
polymicrogyria, hypoplasia of corpus callosum, Chiari malformation, tethered cord
Etiology
Heterozygous (monoallelic) pathologic variant of the KMT2A gene located on chromosome 11q23.
KMT2A regulates gene expression during development
Prevalence is about 1:25,000 to 40,000.
Resources
Gene Reviews Summary
Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations. Miyake N. et al. Clinical Genetics 2015;89(1):115-119
syndrome