​Symptoms and Signs – Differential Diagnosis of Tall Stature
CONSTITUTIONAL (FAMILIAL OR GENETIC)
Most common cause
ENDOCRINE CAUSES
• Growth hormone excess: gigantism
• Sexual precocity (tall as children, short as adults): true sexual
precocity, pseudosexual precocity
• Androgen deficiency: Klinefelter’s syndrome, bilateral anorchism
GENETIC CAUSES
• Klinefelter’s syndrome
• Syndromes of XYY, XXYY
MISCELLANEOUS SYNDROMES AND DISORDERS
• Cerebral gigantism or Sotos syndrome: prominent forehead, hypertelorism, high arched palate, dolichocephaly, mental retardation, large hands and feet, and premature eruption of teeth; large at birth, with most rapid growth in first 4 years of life
• Marfan syndrome: disorder of mesodermal tissues, subluxation of the lenses, arachnodactyly, aortic aneurysm
• Homocystinuria: same phenotype as Marfan syndrome
• Obesity: tall as infants, children, and adolescents
• Total lipodystrophy: large hands and feet, generalized loss of subcutaneous fat, insulin-resistant diabetes mellitus, hepatomegaly
• Beckwith-Wiedemann syndrome: neonatal tallness, omphalocele, macroglossia, neonatal hypoglycemia
• Weaver-Smith syndrome: excessive intrauterine growth, mental
retardation, megalocephaly, widened bifrontal diameter, hypertelorism, large ears, micrognathia, camptodactyly, broad thumbs, limited extension of elbows and knees
• Marshall-Smith syndrome: excessive intrauterine growth, mental retardation, blue sclerae, failure to thrive, early death