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Items: 5

1.

Kabuki make-up syndrome

Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities including isolated premature thelarche in females, feeding problems, and hearing loss. [from GeneReviews]

MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality; Disease or Syndrome
2.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Kabuki syndrome

MedGen UID:
833597
Concept ID:
CN229564
Disease or Syndrome
4.

Nevus

A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from HPO]

MedGen UID:
425158
Concept ID:
CN003400
Finding
5.

Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. [from HPO]

MedGen UID:
505205
Concept ID:
CN002126
Finding
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