Rare Ophthalmology News

Disease Profile

Kniest dysplasia

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

Infancy

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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

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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.

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; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[1]

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.

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.
    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 contracture of finger
    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 palate
    Cleft roof of mouth
    0000175
    Disproportionate short-trunk short stature
    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 ptosis
    Drooping of both upper eyelids
    0001488
    Cataract
    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
    Autosomal dominant inheritance
    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

      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

        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

          1. Kniest dysplasia. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/condition/kniest-dysplasia. Accessed 5/20/2013.

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