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Disease Profile

Barraquer-Simons syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

E88.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

APL; Lipodystrophy partial acquired; Lipodystrophy cephalothoracic type;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

Summary

Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen.[1] Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness.[1] It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years.[1] Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs.[1] Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Lipoatrophy
Loss of fat tissue in localized area
0100578
30%-79% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Decreased serum complement C3
0005421
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Lymphocytosis
High lymphocyte count
0100827
Myopathy
Muscle tissue disease
0003198
Progeroid facial appearance
Premature aged appearance
0005328
Seizure
0001250
5%-29% of people have these symptoms
Arthralgia
Joint pain
0002829
Generalized hirsutism
Excessive hairiness over body
0002230
Glomerulopathy
0100820
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Immunodeficiency
Decreased immune function
0002721
Insulin resistance
Body fails to respond to insulin
0000855
Microscopic hematuria
Small amount of blood in urine
0002907
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Percent of people who have these symptoms is not available through HPO
Abnormal circulating lipid concentration
0003119
Autosomal dominant inheritance
0000006
Diabetes mellitus
0000819
Hematuria
Blood in urine
0000790
Hirsutism
Excessive hairiness
0001007
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Loss of subcutaneous adipose tissue from upper limbs
Loss of fat tissue below the skin from upper limbs
0009056
Loss of truncal subcutaneous adipose tissue
Loss of fat tissue in trunk
0009002
Membranoproliferative glomerulonephritis
0000793
Nephrotic syndrome
0000100
Polycystic ovaries
0000147
Progressive loss of facial adipose tissue
Facial fat wasting
Progressive loss of facial fat

[ more ]

0009019
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Sporadic
No previous family history
0003745

Treatment

Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques.

No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status.

If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.[2]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • MedlinePlus Genetics contains information on Barraquer-Simons syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Barraquer-Simons syndrome. Click on the link to view a sample search on this topic.

Diagrams/Images

References

  1. Acquired: Partial Lipodystrophy (Barraquer-Simons Syndrome). The University of Texas Southwestern Medical Center at Dallas Web site. 2007; https://www.utsouthwestern.edu/media/files/2400/Partial-Lipo-Barraquer-Simons-Syndrome.pdf. Accessed 7/29/2011.
  2. George T Griffing. Acquired Partial Lipodystrophy. Medscape Reference. May 11, 2012; https://emedicine.medscape.com/article/123039-overview. Accessed 12/13/2013.

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