Rare Endocrinology News
Disease Profile
Kyphomelic 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.
0
Age of onset
Antenatal
ICD-10
-
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)
Bowing, congenital, with short bones; Congenital bowing with short bones
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately
Recent studies indicate that Kyphomelic dysplasia is no longer considered it's own entity and that individual cases should be further evaluated and re-classified as another existing chondrodysplasias, such as Schwartz-Jampel
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 form of the vertebral bodies | 0003312 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Anterior rib cupping | 0000907 | |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Disproportionate |
0003498 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Undulate ribs |
Wavy ribs
|
0010561 |
30%-79% of people have these symptoms | ||
Flat acetabular roof | 0003180 | |
Flat face |
Flat facial shape
|
0012368 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
5%-29% of people have these symptoms | ||
Large hands |
large hand
|
0001176 |
Muscular |
Low or weak muscle tone
|
0001252 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bowed humerus |
Bowed long bone in upper arm
|
0003865 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
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 |
Dumbbell-shaped humerus |
Dumbbell-shaped long bone in upper arm
|
0005009 |
Femoral bowing |
Bowed thighbone
|
0002980 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
High forehead | 0000348 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Pterygium | 0001059 | |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Short femur |
Short thighbone
|
0003097 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ] |
0005257 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ] |
0002982 |
Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
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.
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 Kyphomelic dysplasia. Click on the link to view a sample search on this topic.
References
- Pallotta R, et al. Radiology. September 1999; https://radiology.rsna.org/content/212/3/847.long. Accessed 2/10/2011.
- Martine M, et al. Re-Evaluation of Kyphomelic dysplasia. America Journal of Medical Genetics. 2003;
- Spranger J, et al. Spectrum of Schwartz-Jampel Syndrome Includes Micromelic Chondrodysplasia, Kyphomelic Dysplasia, and Burton Disease. American Journal of Medical Genetics. 2000;