Rare Endocrinology News
Disease Profile
Kyphoscoliotic 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.
Unknown
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)
EDS VIA; EDS, kyphoscoliotic type; EDS, oculoscoliotic type;
Categories
Congenital and Genetic Diseases; Eye diseases; Skin Diseases
Summary
Kyphoscoliotic Ehlers-Danlos
Symptoms
- Hyperextensible skin that is fragile and bruises easily
- Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations)
- Severe
hypotonia at birth - Progressive kyphoscoliosis (kyphosis and
scoliosis ), present at birth or within the first year of life - Scleral fragility
- Abnormal wound healing
- "Marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
- Fragile arteries that are prone to rupture
- Delayed motor development
- Unusually small corneas
- Osteopenia (low bone density)
- Congenital clubfoot
- Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
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 |
0012379 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Fragile skin |
Skin fragility
|
0001030 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Osteopenia | 0000938 | |
0000939 | ||
Thoracic kyphoscoliosis | 0005659 | |
30%-79% of people have these symptoms | ||
Disproportionate tall stature | 0001519 | |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
5%-29% of people have these symptoms | ||
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
Arterial dissection | 0005294 | |
Arterial rupture | 0025019 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
0008780 | ||
Decreased muscle mass | 0003199 | |
Delayed gross motor development |
Delayed motor skills
|
0002194 |
Distal joint laxity | 0020152 | |
EMG: myopathic abnormalities | 0003458 | |
Generalized muscle weakness | 0003324 | |
0000501 | ||
Hip subluxation |
Partial hip dislocation
|
0030043 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Inguinal hernia | 0000023 | |
Mitral valve prolapse | 0001634 | |
Muscle fiber atrophy |
Muscle fiber degeneration
|
0100295 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Pectus excavatum |
Funnel chest
|
0000767 |
Poor wound healing | 0001058 | |
Reduced tendon reflexes | 0001315 | |
Retinal detachment |
Detached retina
|
0000541 |
Scleral rupture | 0025513 | |
Shoulder subluxation |
Partial shoulder dislocation
|
0003835 |
Umbilical hernia | 0001537 | |
Widened atrophic scar | 0031158 | |
1%-4% of people have these symptoms | ||
Abnormal venous morphology |
Abnormal vein
|
0002624 |
Abnormality of the brachial nerve plexus | 0045052 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Impaired tandem gait |
Clumsy tandem walking
|
0031629 |
Peripheral axonal neuropathy | 0003477 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Recurrent pneumonia | 0006532 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Wrist drop | 0031189 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
Cause Kyphoscoliotic Ehlers-Danlos
Diagnosis A diagnosis of kyphoscoliotic Ehlers-Danlos
Testing Resources
Treatment The treatment of kyphoscoliotic Ehlers-Danlos
GeneReview's Web site offers more specific information regarding the treatment and management of kyphoscoliotic EDS. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan. 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
Social Networking Websites
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. Where to Start
In-Depth Information
References
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