Table 1

Syndromes and conditions commonly associated with short stature

ConditionAssociated features
Turner syndromeWebbed neck, shield shaped chest, low posterior hairline, wide carrying angle, low set ears, cardiac lesions, hypogonadism
Growth hormone deficiencyMidface hypoplasia, micropenis, truncal obesity
Noonan syndromeLow hairline, webbed neck, hypertelorism, low set posteriorly rotated ears, cardiac defects, pectus deformities
Russell Silver syndromeProminent forehead, triangular facies, micrognathia, thin upper lip
Prader–Willi syndromeObesity, hypogonadism, almond shaped eyes, narrow bridge of nose, thin upper lip
Achondroplasia/ hypochondroplasiaShort arms and legs, macrocephaly, prominent forehead, lumbar lordosis