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Disease Profile

Kyphomelic 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

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

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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.

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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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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 short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern. [1]

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 syndrome. [2][3]

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 short stature
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
Micrognathia
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 hypotonia
Low or weak muscle tone
0001252
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bowed humerus
Bowed long bone in upper arm
0003865
Cleft palate
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

    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

      1. Pallotta R, et al. Radiology. September 1999; https://radiology.rsna.org/content/212/3/847.long. Accessed 2/10/2011.
      2. Martine M, et al. Re-Evaluation of Kyphomelic dysplasia. America Journal of Medical Genetics. 2003;
      3. Spranger J, et al. Spectrum of Schwartz-Jampel Syndrome Includes Micromelic Chondrodysplasia, Kyphomelic Dysplasia, and Burton Disease. American Journal of Medical Genetics. 2000;