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Disease Profile

Spondylometaphyseal dysplasia, Kozlowski type

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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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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 short stature involving the trunk. "Spondylo"refers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone.[1][2] Spondylometaphyseal dysplasia, Kozlowski type is caused by mutations in the TRPV4 gene. Inheritance is autosomal dominant.[2] Treatment is surgical or the use of braces to align the spine.[1][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
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
Short stature
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
Brachydactyly
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
Scoliosis
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
Autosomal dominant inheritance
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

    1. Schindler A, Sumner C & Hoover-Fong JE.. TRPV4-Associated Disorders.. GeneReviews. May 15, 2014; https://www.ncbi.nlm.nih.gov/books/NBK201366/.
    2. 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.
    3. 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.