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Disease Profile
Mandibuloacral dysplasia with type B lipodystrophy
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.
0
Age of onset
-
ICD-10
Q87.5
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
MADB; Lipodystrophy, type B, associated with mandibuloacral dysplasia
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases;
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 | ||
Acroosteolysis of distal phalanges (feet) | 0001870 | |
Aplasia/Hypoplasia of the clavicles |
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ] |
0006710 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Osteolytic defects of the distal phalanges of the hand | 0009839 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal fingertip morphology |
Abnormality of the fingertips
|
0001211 |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Alopecia |
Hair loss
|
0001596 |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Generalized lipodystrophy | 0009064 | |
Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of hair texture | 0010719 | |
Abnormality of the neck | 0000464 | |
0000007 | ||
Bird-like facies |
Bird-like facial appearance
|
0000320 |
Brittle hair | 0002299 | |
Decreased adipose |
Loss of fat around neck
|
0005995 |
Delayed cranial suture closure | 0000270 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperglycemia |
High blood sugar
|
0003074 |
Hyperinsulinemia | 0000842 | |
Hypoplasia of teeth | 0000685 | |
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
Loss of facial adipose tissue |
Decreased amount of facial fat
Loss of facial fat
[ more ] |
0000292 |
Loss of subcutaneous adipose tissue in limbs |
Loss of fat tissue below the skin in limbs
|
0003635 |
Loss of truncal subcutaneous adipose tissue |
Loss of fat tissue in trunk
|
0009002 |
Mottled pigmentation |
Mottled skin coloring
|
0001070 |
Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ] |
0000418 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Progressive clavicular acroosteolysis | 0000905 | |
Short clavicles |
Short collarbone
|
0000894 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Sparse hair | 0008070 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
In-Depth Information
- 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 Mandibuloacral dysplasia with type B lipodystrophy. Click on the link to view a sample search on this topic.