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Disease Profile
Arthrogryposis multiplex congenita, distal, X-linked
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
Neonatal
ICD-10
G12.1
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)
AMC, distal, X-linked
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 1145
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 | ||
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
30%-79% of people have these symptoms | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
Bilateral single transverse palmar creases | 0007598 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Long philtrum | 0000343 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Macrotia |
Large ears
|
0000400 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Skin dimple | 0010781 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Areflexia |
Absent tendon reflexes
|
0001284 |
Arthrogryposis multiplex congenita | 0002804 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Degeneration of anterior horn |
0002398 | |
Facial palsy |
Bell's palsy
|
0010628 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Multiple joint |
0002828 | |
Myopathic facies | 0002058 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
Spinal muscular atrophy |
Spinal muscle degeneration
Spinal muscle wasting
[ more ] |
0007269 |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ] |
0001308 |
0001419 |
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 Arthrogryposis multiplex congenita, distal, X-linked. Click on the link to view a sample search on this topic.