ABSTRACT
Human hair is a key phenotypic indicator of possible underlying metabolic or genetic disorder. Genetic factors are likely to play a major role in the appearance of the clinical symptoms. Genetic hair disorders can cause hypertrichosis or severe alopecia in both adults and children and May occasionally present as part of a multisystem syndrome. Cantu syndrome (CS) is a rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, distinctive coarse face, cardiomegaly, and occasionally skeletal abnormalities. Most of the patients with CS have a history of early motor and language developmental delays as well as attention problems. Another genetic syndrome with hair abnormalities is Noonan syndrome (NS). NS is an autosomal dominant, multisystem disorder characterized by dysmorphic features, short stature, cardiac and brain anomalies, predisposition to certain malignancies, and developmental delay. Hidrotic ectodermal dysplasia is a rare autosomal dominant disorder characterized by nail thickening/shortening, palmoplantar keratoderma, and short-thin sparse hair.
