genetic
Kabuki syndrome
Kabuki is a rare disorder of origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Vary widely among patients but may include: Long eyelashes, depressed nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, , blue sclera, cafe au lait spot, GU anomalies (e.g. or horseshoe kidney), gi anomalies (e.g. anal or ), hearing loss, deficiencies (e.g. hypogammaglobinemia), feeding difficulty (infants), (adulthood), short , poor sleep, (), , defects (e.g. of the ), anamolies (e.g. butterfly vertebrae), sparse eyelash, finger anomaly (e.g. short 5th finger), , dental issues, precocious puberty, , hip
Causes — why it happens
- · in KMT2D or KDM6A genes
How it's found
- · findings; testing
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