Rare Medical News

Disease Profile

Mandibuloacral dysplasia with type B lipodystrophy

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

-

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

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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)

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
Micrognathia
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
Short stature
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
Autosomal recessive inheritance
0000007
Bird-like facies
Bird-like facial appearance
0000320
Brittle hair
0002299
Decreased adipose tissue around neck
Loss of fat around neck
0005995
Delayed cranial suture closure
0000270
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Flexion contracture
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 diabetes mellitus
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.