Rare Psychiatry News
Advertisement
Disease Profile
Marfanoid habitus-autosomal recessive intellectual disability syndrome
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 2463
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 | ||
Disproportionate tall stature | 0001519 | |
Eunuchoid habitus | 0003782 | |
Global |
0001263 | |
Increased arm span | 0012771 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 |
30%-79% of people have these symptoms | ||
Abnormality of the columella | 0009929 | |
Abnormality of the palpebral fissures |
Abnormality of the opening between the eyelids
|
0008050 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Broad chin |
Increased width of chin
Wide chin
[ more ] |
0011822 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Flat face |
Flat facial shape
|
0012368 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the musculature |
Poorly developed skeletal musculature
Underdeveloped muscle
[ more ] |
0009004 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ] |
0001833 |
Macrotia |
Large ears
|
0000400 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow mouth |
Small mouth
|
0000160 |
Osteopenia | 0000938 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Small hypothenar eminence | 0010487 | |
Subcortical cerebral atrophy | 0012157 | |
Thenar muscle atrophy | 0003393 | |
Thin metacarpal cortices | 0006086 | |
Thin metatarsal cortices | 0008078 | |
Thin ribs |
Slender ribs
|
0000883 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
5%-29% of people have these symptoms | ||
Abnormality of the thymus | 0000777 | |
Broad philtrum | 0000289 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Hirsutism |
Excessive hairiness
|
0001007 |
Loss of truncal subcutaneous adipose |
Loss of fat tissue in trunk
|
0009002 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Lumbar hemivertebrae | 0008439 | |
Mucosal telangiectasiae | 0100579 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Psychomotor retardation | 0025356 | |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Tall stature |
Increased body height
|
0000098 |
Organizations
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.
Organizations Supporting this Disease
-
Genetic Aortic Disorders Association Canada (GADA Canada)
Centre Plaza Postal Outlet
128 Queen Street South
P.O. Box 42257
Mississauga Ontario L5M 4Z0
Canada
Toll-free: 866-722-1722
Telephone: 905-826-3223
Fax: 905-826-2125
E-mail: [email protected]
Website: https://www.gadacanada.ca/ -
The Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 1-800-8-MARFAN (800-862-7326)
Telephone: +1-516-883-8712
Fax: +1-516-883-8040
E-mail: https://www.marfan.org/secure/ask
Website: https://www.marfan.org/
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.