Familial multiple lipomatosis
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Other Names (AKA)
Congenital and Genetic Diseases; Skin Diseases
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||
|80%-99% of people have these symptoms|
Increased fat tissue
Body fails to respond to insulin
Inability to make and keep healthy fat tissue
|30%-79% of people have these symptoms|
|Functional intestinal obstruction||0005249|
Elevated lipids in blood
|5%-29% of people have these symptoms|
|Abnormal tricuspid valve morphology||0001702|
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation
[ more ]
Fluid-filled sac located in membrane surrounding brain or spinal cord
|Bowing of the long bones||
Bowed long bones
Bowing of long bones
[ more ]
Abnormal deposits of calcium in the brain
|Delayed speech and language development||
Deficiency of speech development
Delayed language development
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
[ more ]
|Hypoplasia of the
Underdevelopment of part of brain called corpus callosum
Increased size of skull
Large head circumference
[ more ]
|Odontogenic keratocysts of the jaw||0010603|
|Premature eruption of permanent teeth||
Early eruption of adult teeth
Early eruption of permanent teeth
Premature eruption of adult teeth
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Multiple fatty lumps
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
- 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 Familial multiple lipomatosis. Click on the link to view a sample search on this topic.
- Herbst KL. Subcutaneous Adipose Tissue Diseases: Dercum Disease, Lipedema, Familial Multiple Lipomatosis, and Madelung Disease. [Updated 2019 Dec 14]. In: Feingold KR, Anawalt B, Boyce A, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
- Arabadzhieva E, Yonkov A, Bonev S, Bulanov D, Taneva I, Ivanova V, Dimitrova V. A rare combination between familial multiple lipomatosis and extragastrointestinal stromal tumor. Int J Surg Case Rep. 2015; 14:117-120.
- Tana C, Tchernev G. Images in clinical medicine. Familial multiple lipomatosis. N Engl J Med. September 2014; 371(13):1237.
- LIPOMATOSIS, MULTIPLE. OMIM. August 2010; https://www.omim.org/entry/151900.