National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spondylometaphyseal dysplasia, Kozlowski type


Other Names:
Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; Jequier Kozlowski skeletal dysplasia See More
Categories:
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]
Last updated: 12/6/2016

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
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
Abnormality of the face
Abnormal face
Facial abnormality
[ more ] 		0000271
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ] 		0001760
Abnormality of the rib cage 0001547
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
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Last updated: 7/1/2020

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

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondylometaphyseal dysplasia, Kozlowski type. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Spondylometaphyseal dysplasia, Kozlowski type:
    International Skeletal Dysplasia Registry (ISDR)
     

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.

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.

  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.