x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Berardinelli-Seip congenital lipodystrophy

Disease definition

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

ORPHA:528

  • Synonym(s):
    • BSCL
    • Beradinelli-Seip syndrome
    • Brunzell syndrome
    • GCL
    • Generalized congenital lipodystrophy
    • Lipoatrophic diabetes
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.1
  • OMIM: 269700  608594  612526
  • UMLS: C0011859  C0221032
  • MeSH: -
  • GARD: -
  • MedDRA: 10024603

Detailed information

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.