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| kabuki_syndrome [2025/07/17 00:24] – created Scott Larson | kabuki_syndrome [2025/07/17 00:47] (current) – Scott Larson | ||
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| ====== Kabuki Syndrome ====== | ====== Kabuki Syndrome ====== | ||
| + | ====Main Features==== | ||
| + | * Distinctive facial features | ||
| + | * long palpebral fissures with eversion of the lateral 1/3 of lower eyelid | ||
| + | * arched and broad eyebrows often with sparsness laterally | ||
| + | * short columella with depressed nasal tip | ||
| + | * large prominent cupped ears | ||
| + | <WRAP round box> | ||
| + | {{:: | ||
| + | From reference [4] | ||
| + | </ | ||
| + | * developmental delay and intellectual disability | ||
| + | * Post natal growth deficiency | ||
| + | * Skeletal anomalies | ||
| + | * Persistent fetal fingertip pads | ||
| + | |||
| + | ====Eye Findings==== | ||
| + | * Everted lower eyelids | ||
| + | * Found in about 1/3 | ||
| + | * Strabismus | ||
| + | * Ptosis | ||
| + | * Blue sclerae | ||
| + | * Coloboma | ||
| + | * Marcus Gunn jaw wink | ||
| + | * Peters anomaly | ||
| + | * More Rare | ||
| + | * Optic nerve hypoplasia | ||
| + | * colobomatous microphthalmia | ||
| + | * anophthalmia | ||
| + | ====Other Findings==== | ||
| + | * Congenital heart defects | ||
| + | * GU anomalies | ||
| + | * Cleft palate | ||
| + | * Increased susceptibility to infections and autoimmune disorders | ||
| + | * Immune thrombocytopenia | ||
| + | ====Etiology==== | ||
| + | * 75% from KMT2D gene mutations (autosomal dominant) | ||
| + | * 8% from KDM6A gene mutations (X-linked dominant) | ||
| + | * rest unknown | ||
| + | ====Resources==== | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | {{tag> | ||