Turner syndrome

**Definition:** Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.

**Inclusions:** - Monosomy X

**Exclusions:** - Noonan syndrome