Kniest dysplasia

Title

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases See More

Summary 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]

Last updated: 5/20/2013

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
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
Disproportionate short-trunk short stature	Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ]	0003521
Dumbbell-shaped long bone		0000947
Enlarged thorax	Wide rib cage	0100625
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
Hyperlordosis	Prominent swayback	0003307
Hypoplastic pelvis		0008839
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Kyphosis	Hunched back Round back [ more ]	0002808
Micromelia	Smaller or shorter than typical limbs	0002983
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Osteoarthritis	Degenerative joint disease	0002758
Platyspondyly	Flattened vertebrae	0000926
Retinopathy	Noninflammatory retina disease	0000488
Rhizomelia	Disproportionately short upper portion of limb	0008905
Scoliosis	Abnormal curving of the spine	0002650
Short thorax	Shorter than typical length between neck and abdomen	0010306
Skeletal dysplasia		0002652
Vitreoretinopathy		0007773
30%-79% of people have these symptoms
Cleft palate	Cleft roof of mouth	0000175
Coxa vara		0002812
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Retinal detachment	Detached retina	0000541
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
5%-29% of people have these symptoms
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Ectopia lentis		0001083
Glaucoma		0000501
Glossoptosis	Retraction of the tongue	0000162
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Ptosis	Drooping upper eyelid	0000508
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Tracheal stenosis	Narrowing of windpipe	0002777
Tracheomalacia	Floppy windpipe	0002779
Percent of people who have these symptoms is not available through HPO
Abnormal cartilage collagen		0008271
Autosomal dominant inheritance		0000006
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Coronal cleft vertebrae		0003417
Delayed epiphyseal ossification		0002663
Enlarged joints		0003037
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hip contracture		0003273
Inguinal hernia		0000023
Lumbar kyphoscoliosis		0004619
Malar flattening	Zygomatic flattening	0000272
Motor delay		0001270
Recurrent otitis media	Recurrent middle ear infection	0000403
Short neck	Decreased length of neck	0000470
Splayed epiphyses	Splayed end part of bone	0200003
Umbilical hernia		0001537

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

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 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

Kniest SED Group
E-mail: support@ksginfo.org
Website: http://www.ksginfo.org/kniest.html
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: info@lpaonline.org
Website: https://www.lpaonline.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.