Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, were included in the publication.The original description of Kabuki syndrome by Niikawa et al. defined five cardinal manifestations, although some of these “cardinal manifestations” may or may not be present in a patient with Kabuki syndrome. Typical facial features: Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying sparseness or notching; short columella with depressed nasal tip; large, prominent, or cupped ears
Skeletal anomalies: Spinal column abnormalities, including sagittal cleft vertebrae, butterfly vertebrae, narrow intervertebral disc space, and/or scoliosis, Brachydactyly V Brachymesophalangy Clinodactyly of fifth digits
Dermatoglyphic abnormalities: persistence of fetal fingertip pads
Mild to moderate intellectual disability
Postnatal growth deficiencyKabuki syndrome is diagnosed clinically (through identifying symptoms, physical exams, and lab results), most commonly by a geneticist. Alternatively, it may be discovered using genetic testing (whole exome or whole genome sequencing).Diagnosis can be difficult given the large spectrum of disease. The fact that some patients do not carry one of the two known mutations or can carry multiple mutations complicates the diagnosis further.
The paroophoron (of Johnson) consists of a few scattered rudimentary tubules, best seen in the child, situated in the broad ligament between the epoöphoron and the uterus. Named for the Welsh anatomist David Johnson who originally described the structure at the University of Wales, Aberystwyth. It is a remnant of the mesonephric tubules. See also
Epoophoron

References
External links
figures/chapter_35/35-8.HTM: Basic Human Anatomy at Dartmouth Medical School
Swiss embryology (from UL, UB, and UF) ugenital/genitinterne05