Total 62 clinical symptoms reported for Kabuki syndrome
Abnormal dermatoglyphics |
An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
Synonyms:Abnormal fingerprints; Dermatoglyphic abnormalities |
Very frequent |
Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormally shaped vertebrae |
Very frequent |
Butterfly vertebrae |
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Synonyms:Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae |
Very frequent |
Eversion of lateral third of lower eyelids |
This information is currently in development.
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Very frequent |
Hemivertebrae |
Absence of one half of the vertebral body.
Synonyms:Hemi-vertebrae; Hemivertebra; Missing part of vertebrae |
Very frequent |
Highly arched eyebrow |
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Synonyms:Arched eyebrows; Broad, arched eyebrows; High, rounded eyebrows; High-arched eyebrows; Highly arched eyebrow; Thick, flared eyebrows |
Very frequent |
Long eyelashes |
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Synonyms:Ciliary trichomegaly; Eyelash trichomegaly; Increased length of eyelashes; Long eyelashes; Unusually long eyelashes |
Very frequent |
Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
Protruding ear |
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Synonyms:Prominent ear; Prominent ears |
Very frequent |
Short 5th finger |
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Synonyms:Fifth finger brachydactyly; Hypoplastic phalanges of the little finger; Hypoplastic/small 5th finger; Hypoplastic/small little finger; Short 5th finger; Short fifth finger; Short fifth fingers; Short little finger; Short phalanges of the little finger; Short pinkie finger; Short pinky finger |
Very frequent |
Short columella |
Reduced distance from the anterior border of the naris to the subnasale.
Synonyms:Columella, short; Decreased length of columella |
Very frequent |
Short middle phalanx of finger |
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Synonyms:Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones |
Very frequent |
Sparse lateral eyebrow |
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Synonyms:Lateral hypoplasia of eyebrows; Lateral thinning of eyebrows; Laterally sparse eyebrow; Laterally sparse eyebrows; Limited hair on end of eyebrow |
Very frequent |
Vertebral clefting |
Schisis (cleft or cleavage) of vertebral bodies.
Synonyms:Vertebral clefts |
Very frequent |