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.
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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, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias or horseshoe kidney), gi anomalies (e.g. anal atresia or ), hearing loss, deficiencies (e.g. hypogammaglobinemia), feeding difficulty (infants), (adulthood), short , poor sleep, hyperinsulinemia (hypoglycemia), epilepsy, defects (e.g. coarctation of the aorta), vertebral anamolies (e.g. butterfly vertebrae), sparse eyelash, finger anomaly (e.g. short 5th finger), cleft palate, dental issues, precocious puberty, scoliosis, hip
Causes — why it happens
- · in KMT2D or KDM6A genes
How it's found
- · findings; testing
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