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Disease Profile
Musculocontractural Ehlers-Danlos 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.
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Age of onset
Infancy
ICD-10
Q79.6
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)
Autosomal recessive adducted thumb-club foot syndrome; Adducted thumb clubfoot syndrome; Musculocontractural EDS;
Categories
Congenital and Genetic Diseases; Heart Diseases; Kidney and Urinary Diseases;
Summary
Adducted thumb and clubfoot
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 | ||
Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
Arthrogryposis multiplex congenita | 0002804 | |
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased muscle mass | 0003199 | |
Decreased palmar creases |
Shallow palm line
|
0006184 |
Delayed gross motor development |
Delayed motor skills
|
0002194 |
Disproportionate tall stature | 0001519 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
External ear malformation | 0008572 | |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperalgesia | 0031005 | |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Long philtrum | 0000343 | |
Low-set, posteriorly rotated ears | 0000368 | |
Macrotia |
Large ears
|
0000400 |
Muscle weakness |
Muscular weakness
|
0001324 |
Narrow mouth |
Small mouth
|
0000160 |
Prominent nasolabial fold |
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ] |
0005272 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Recurrent joint dislocation | 0031869 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ] |
0001238 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
30%-79% of people have these symptoms | ||
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Cervical kyphosis |
Rounded neck
|
0002947 |
Constipation | 0002019 | |
Kyphoscoliosis | 0002751 | |
Microretrognathia |
Small retruded chin
|
0000308 |
Myopathy |
Muscle tissue disease
|
0003198 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Ocular |
High eye pressure
|
0007906 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Retinal detachment |
Detached retina
|
0000541 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
5%-29% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Abnormality of mesentery morphology | 0100016 | |
Atlantoaxial dislocation | 0003414 | |
0410030 | ||
Cleft roof of mouth
|
0000175 | |
0001363 | ||
Functional abnormality of the bladder | 0000009 | |
0000501 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hydronephrosis | 0000126 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Pneumothorax |
Collapsed lung
|
0002107 |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Inguinal hernia | 0000023 | |
Malrotation of small bowel | 0004794 | |
OrganizationsSupport 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 moreThese 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
References
Rare Neurology News |