congenital total lipodystrophy

(redirected from Berardinelli syndrome)

con·gen·i·tal to·tal lip·o·dys·tro·phy

[MIM*269700]
characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3-4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance.

con·gen·i·tal to·tal lip·o·dys·tro·phy

(kŏn-jen'i-tăl tō'tăl lip'ō-dis'trŏ-fē)
Characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3-4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance.
Synonym(s): Berardinelli syndrome, Seip syndrome.