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Disease Profile
Kniest dysplasia
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
Q77.7
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
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Kniest dysplasia is a disorder of bone growth characterized by
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
|
---|---|---|
100% of people have these symptoms | ||
Abnormal cartilage collagen | 0008271 | |
80%-99% of people have these symptoms | ||
Bell-shaped thorax | 0001591 | |
Degenerative vitreoretinopathy | 0007964 | |
Delayed epiphyseal ossification | 0002663 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Enlarged joints | 0003037 | |
Flexion |
0012785 | |
High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] |
0011003 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Keratan sulfate excretion in urine | 0012069 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
30%-79% of people have these symptoms | ||
Abnormality of the epiphysis of the femoral head |
Abnormality of the end part of the innermost thighbone
|
0010574 |
Aplasia/hypoplasia of the extremities |
Absent/small extremities
Absent/underdeveloped extremities
[ more ] |
0009815 |
Aplasia/Hypoplasia of the lens |
Absent/small lens
Absent/underdeveloped lens
[ more ] |
0008063 |
Arthropathy |
Disease of the joints
|
0003040 |
Cervical spine instability | 0010646 | |
Cleft roof of mouth
|
0000175 | |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Enlarged epiphyses |
Large end part of bone
|
0010580 |
Enlarged metaphyses |
Enlarged wide portion of a long bone
|
0003051 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplasia of the odontoid process | 0003311 | |
Lattice retinal degeneration | 0007992 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Rhegmatogenous retinal detachment | 0012230 | |
Short long bone |
Long bone shortening
|
0003026 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
5%-29% of people have these symptoms | ||
Anterior vertebral fusion | 0004557 | |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Coronal cleft vertebrae | 0003417 | |
Delayed patellar ossification | 0006454 | |
Dumbbell-shaped femur |
Dumbbell-shaped thighbone
|
0006375 |
Erythematous plaque | 0025474 | |
Fused cervical vertebrae |
Fused neck
|
0002949 |
Lens luxation |
Dislocated lens
|
0012019 |
Pierre-Robin sequence | 0000201 | |
Short neck |
Decreased length of neck
|
0000470 |
Vertebral wedging |
Wedge-shaped vertebrae
|
0008422 |
1%-4% of people have these symptoms | ||
Laryngotracheomalacia | 0008755 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Coxa vara | 0002812 | |
Dumbbell-shaped long bone | 0000947 | |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Flattened, squared-off epiphyses of tubular bones |
Flattened, squared-off end part of tubular bones
|
0006172 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hip contracture | 0003273 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hypoplastic pelvis | 0008839 | |
Inguinal hernia | 0000023 | |
Lumbar kyphoscoliosis | 0004619 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Motor delay | 0001270 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Respiratory distress |
Conditions with similar signs and symptoms from Orphanet
|
---|
Forms of spondyloepiphyseal dysplasia and metatropic dysplasia (see these terms) constitute the principle differential diagnoses. In young patients, clinical and radiological features overlap with those of OSMED (see this term), but in the latter myopia is absent.
Visit the Orphanet disease page for more information.
|
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
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Kniest dysplasia. This website is maintained by the National Library of Medicine.
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 Kniest dysplasia. Click on the link to view a sample search on this topic.
References
- Kniest dysplasia. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/condition/kniest-dysplasia. Accessed 5/20/2013.
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