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Disease Profile

Marfanoid habitus-autosomal recessive intellectual disability syndrome

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

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ICD-10

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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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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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.

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 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

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

    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.