How rare is Berardinelli-Seip congenital lipodystrophy?

Berardinelli-Seip congenital lipodystrophy is classified as rare. The estimated prevalence is approximately 1-9 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Berardinelli-Seip congenital lipodystrophy diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Berardinelli-Seip congenital lipodystrophy?

Information about treatment options and management is currently limited for this condition.

What complications can arise from Berardinelli-Seip congenital lipodystrophy?

People with Berardinelli-Seip congenital lipodystrophy may face complications like high triglyceride levels in the blood, which can lead to heart problems. They might also have an enlarged liver, which can cause discomfort or other health issues. It's important to monitor these complications regularly with a healthcare provider.

How does Berardinelli-Seip congenital lipodystrophy affect daily life?

Living with Berardinelli-Seip congenital lipodystrophy can be challenging due to the lack of body fat and related metabolic issues. Daily activities may be impacted by symptoms like changes in physical appearance and the need for regular health check-ups. Families may need to adjust their routines to manage these aspects effectively.

What is the prognosis for someone with Berardinelli-Seip congenital lipodystrophy?

The prognosis for individuals with Berardinelli-Seip congenital lipodystrophy is not well-defined, as information is limited. However, managing symptoms and complications can help improve quality of life. Regular medical care is important to monitor health and address any issues that arise.

Are there any specialists recommended for managing Berardinelli-Seip congenital lipodystrophy?

While specific recommendations for specialists are not provided, it is generally helpful for individuals with Berardinelli-Seip congenital lipodystrophy to see healthcare providers who understand metabolic disorders. Endocrinologists or geneticists may be particularly useful in managing the condition and its symptoms.

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Berardinelli-Seip congenital lipodystrophy (BSCL) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Berardinelli-Seip congenital lipodystrophy

MONDO:0018883

Also known as:BSCLBeradinelli-Seip syndromeBerardinelli Seip syndrome

Find Clinical TrialsTrials

Overview

A lipodystrophy 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.

OnsetCONGENITAL

Clinical Trials5 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

Berardinelli-Seip congenital lipodystrophy (BSCL) is mostly diagnosed at birth or soon thereafter. Severe forms of BSCL may have prenatal onset with intrauterine growth retardation. Presentation in the first months of life includes failure to thrive (or conversely gigantism), hepatomegaly, lipoatrophy, facial dysmorphia, enlarged tongue, or developmental delay. All children with the neonatal or infantile presentation demonstrate lipoatrophy in the first year of life. Affected adults may first be seen in the plastic surgery clinic seeking cosmetic improvement of facial lipoatrophy or in the cardiology clinic or gastroenterology clinic for manifestations such as hypertrophic cardiomyopathy or hepatomegaly.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Berardinelli-Seip congenital lipodystrophy (BSCL) should be suspected in individuals with one or more of the following major and/or minor findings.

Major Criteria

Lipoatrophy affecting the trunk, limbs, and face. Generalized lipodystrophy is apparent at birth. In some individuals, the face may be normal at birth with lipoatrophy becoming apparent during the first months of life. Lipoatrophy gives an athletic appearance, especially because skeletal muscle hypertrophy is also present. Acromegaloid features include gigantism, muscular hypertrophy, advanced bone age, prognathism, prominent orbital ridges, enlarged hands and feet, clitoromegaly, and enlarged external genitalia in males. Hepatomegaly.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Berardinelli-Seip congenital lipodystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Berardinelli-Seip congenital lipodystrophy (BSCL), the following clinical evaluations are recommended:

Complete blood count

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The following are appropriate:

Periodic screening for glycosuria as a manifestation of diabetes mellitus
For individuals with diabetes mellitus, follow-up in a diabetes clinic every six months to monitor for possible retinal, peripheral nerve, and renal complications

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

5 clinical trials registered, 2 recruiting. Interventions under study include drug therapy. Pipeline includes 4 PHASE3. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT02325674](https://clinicaltrials.gov/study/NCT02325674)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:528

GARD

Genetic and Rare Diseases Info Center

GARD:13388

Questions for Your Care Team

→Are any of the 5 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare condition that falls under the group of lipodystrophies. It is marked by a near total absence of body fat (lipoatrophy) along with a number of metabolic imbalances. People with this condition may have abnormally high levels of triglycerides in the blood (hypertriglyceridemia), an enlarged liver (hepatomegaly), and acromegaloid features which refer to changes in physical appearance such as enlarged hands, feet, or facial features. BSCL is considered as part of the extreme insulin resistance syndromes along with conditions like leprechaunism and Rabson-Mendenhall syndrome. This overview provides basic information to understand that the disease affects body metabolism and fat distribution in a significant way.

Common symptoms of BSCL include a lack of fat tissue (lipoatrophy), high levels of triglycerides in the blood (hypertriglyceridemia), and an enlarged liver (hepatomegaly). People with this condition may also show acromegaloid features, which are changes in the appearance of the hands, feet, and facial features.

Information about causes is currently limited for this condition. Associated genes include CAV1, BSCL2, AGPAT2.

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Research Type	Count	% of Total
Patient case studies	17	30%
Laboratory research	12	21%
Research summaries	10	18%
Disease patterns and progression	9	16%
Testing and diagnosis research	4	7%
New treatment approaches	3	5%
Clinical study results	2	4%

Kisho

Berardinelli-Seip congenital lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Major Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

Berardinelli-Seip congenital lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Major Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Berardinelli-Seip congenital lipodystrophy?

What are the symptoms of Berardinelli-Seip congenital lipodystrophy?

What causes Berardinelli-Seip congenital lipodystrophy?

How rare is Berardinelli-Seip congenital lipodystrophy?

How is Berardinelli-Seip congenital lipodystrophy diagnosed?

Are there treatments for Berardinelli-Seip congenital lipodystrophy?

What complications can arise from Berardinelli-Seip congenital lipodystrophy?

How does Berardinelli-Seip congenital lipodystrophy affect daily life?

What is the prognosis for someone with Berardinelli-Seip congenital lipodystrophy?

Are there any specialists recommended for managing Berardinelli-Seip congenital lipodystrophy?

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA