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| wiedeman_steiner_syndrome [2026/05/26 14:23] – created Scott Larson | wiedeman_steiner_syndrome [2026/05/26 14:46] (current) – [Resources] Scott Larson | ||
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| ======Wiedemann-Steiner Syndrome ====== | ======Wiedemann-Steiner Syndrome ====== | ||
| - | FIXME | ||
| ====Main Features==== | ====Main Features==== | ||
| - | * | + | * Developmental delay/ |
| + | * Hypotonia | ||
| + | * Distinctive Facial Features | ||
| ====Eye Findings==== | ====Eye Findings==== | ||
| Line 20: | Line 21: | ||
| * Microphthalmia (rare) | * Microphthalmia (rare) | ||
| ====Other Findings==== | ====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, | ||
| + | * CNS | ||
| + | * Seizures | ||
| + | * polymicrogyria, | ||
| ====Etiology==== | ====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, | ||
| ====Resources==== | ====Resources==== | ||
| * [[https:// | * [[https:// | ||
| - | * [[https:// | + | * [[https:// |
| {{tag> | {{tag> | ||