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Disease Profile
Mandibuloacral dysplasia
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.
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Age of onset
Infancy
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)
MAD
Summary
Orpha Number: 2457
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 | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
0005781 | ||
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperinsulinemia | 0000842 | |
Increased adipose |
Increased fat around the neck
|
0000468 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Loss of subcutaneous adipose tissue in limbs |
Loss of fat tissue below the skin in limbs
|
0003635 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow nose |
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ] |
0000460 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal tongue morphology | 0030809 | |
Abnormally large globe |
Increased size of eyes
Large eyes
[ more ] |
0001090 |
Darkened and thickened skin
|
0000956 | |
Acroosteolysis of distal phalanges (feet) | 0001870 | |
Alopecia |
Hair loss
|
0001596 |
Delayed cranial suture closure | 0000270 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Facial shape deformation | 0011334 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Hypoplasia of teeth | 0000685 | |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ] |
0001804 |
Increased circulating free fatty acid level | 0030781 | |
Increased intraabdominal fat | 0008993 | |
Increased subcutaneous truncal adipose tissue |
Increased fat below the skin in trunk
|
0009003 |
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
Osteolytic defects of the distal phalanges of the hand | 0009839 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Reduced intrathoracic adipose tissue | 0003809 | |
Short clavicles |
Short collarbone
|
0000894 |
Sparse hair | 0008070 |
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
- Genetics Home Reference contains information on Mandibuloacral dysplasia. This website is maintained by the National Library of Medicine.
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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.