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Disease Profile
Spondylometaphyseal dysplasia, Kozlowski type
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.
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Age of onset
Infancy
ICD-10
Q77.8
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)
Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Spondylometaphyseal dysplasia, Kozlowski type is a bone disease 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
|
---|---|---|
80%-99% of people have these symptoms | ||
Coxa vara | 0002812 | |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Spondylometaphyseal dysplasia | 0002657 | |
30%-79% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 | |
Genu valgum |
Knock knees
|
0002857 |
High forehead | 0000348 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Pectus carinatum |
Pigeon chest
|
0000768 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
5%-29% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Aplastic clavicle |
Absent collarbone
|
0006660 |
Hypoplasia of the odontoid process | 0003311 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
Abnormal rib cage morphology |
Abnormality of the rib cage
|
0001547 |
Abnormality of the face |
Abnormal face
Facial abnormality
[ more ] |
0000271 |
0000006 | ||
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
Disproportionate short-trunk short stature |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Flat acetabular roof | 0003180 | |
Irregular acetabular roof | 0008833 | |
Irregular, rachitic-like metaphyses | 0005042 | |
Kyphoscoliosis | 0002751 | |
Severe carpal ossification delay | 0006069 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
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 Spondylometaphyseal dysplasia, Kozlowski type. Click on the link to view a sample search on this topic.
References
- Schindler A, Sumner C & Hoover-Fong JE.. TRPV4-Associated Disorders.. GeneReviews. May 15, 2014; https://www.ncbi.nlm.nih.gov/books/NBK201366/.
- Nishimura G. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. August 15, 2012; 160C(3):190-204. https://www.ncbi.nlm.nih.gov/pubmed/22791502.
- Ibrahim S, Labelle H & Mac-Thiong JM. Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report. Spine J. June 1, 2015; 15(6):29-34. https://www.ncbi.nlm.nih.gov/pubmed/24291408.