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  3. Marfanoid habitus-autosomal recessive intellectual disability syndrome
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Marfanoid habitus-autosomal recessive intellectual disability syndrome


Title




Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2463

Definition
Marfanoid habitus ? intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

Symptoms Symptoms


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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.

Showing of 46 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Disproportionate tall stature 0001519
Eunuchoid habitus 0003782
Global developmental delay 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 hypotonia
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 tissue
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
Autosomal recessive inheritance 0000007
Intellectual disability
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
Showing of 46 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
  • The Marfan Foundation has a Directory of Medical Institutions which is comprised of institutions throughout the United States that treat Marfan syndrome and related conditions.

Organizations Organizations


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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: info@gadacanada.ca
    Website: http://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/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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