Small patella syndrome
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Scott-Taor syndrome; Coxo-podo-patellar syndrome; Ischiopatellar dysplasia;
Congenital and Genetic Diseases; Musculoskeletal Diseases
Small patella syndrome is caused by a change (pathogenic variant or
A person with SPS may have abnormally shaped hip (
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||
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Aplasia/Hypoplasia of the patella||
[ more ]
|30%-79% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Cleft roof of mouth
|Flat capital femoral epiphysis||
Flat end part of innermost thighbone
Increased palatal height
[ more ]
|Hypoplasia of the lesser trochanter||0008801|
Little lower jaw
Small lower jaw
[ more ]
[ more ]
[ more ]
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
Decreased body height
[ more ]
|Wide capital femoral epiphyses||
Wide end part of innermost thighbone
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other features of SPS may be treated as they would in people who do not have SPS. For example,
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
SPS should be recognized and differentiated from disorders with aplastic or hypoplastic patellae, such as isolated familial patella aplasia-hypoplasia (PTLAH) syndrome and the more severe nail-patella syndrome (NPS).
Visit the Orphanet disease page for more information.
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.
- 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 Small patella syndrome. Click on the link to view a sample search on this topic.
- Lacombe D. Coxopodopatellar syndrome. Orphanet. November 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509.
- Wang CH, Shu L, Ma LF, Zhou JW, Ji G, Wang F, and Wang J. Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. Orthopedics. November 2013; 36(11):e1418-1423. https://www.ncbi.nlm.nih.gov/pubmed/24200447.
- Ischiocoxopodopatellar Syndrome; ICPPS. Online Mendelian Inheritance in Man. January 29, 2016; https://www.omim.org/entry/147891.
- Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S. Small patella syndrome: New clinical and molecular insights into a consistent phenotype. Clinical Genetics. December 2017; 92(6):676-678. https://www.ncbi.nlm.nih.gov/pubmed/29120062.
- Penhoat-Gahier M, Chaillous B, Cozic C, Andre V, and Cormier G. Small patella syndrome. Joint Bone Spine. May 2017; 84(3):377-378. https://www.ncbi.nlm.nih.gov/pubmed/27344077.
- Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, and Berger RM. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Journal of Medical Genetics. August 2013; 50(8):500-506. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717587/.
- Diagnosing and Treating Pulmonary Arterial Hypertension. American Lung Association. August 4, 2016; https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/pulmonary-arterial-hypertension/diagnosing-treating-pul-arterial-hypertension.html.
- De Heer EW, Gerrits MMJG, Beekman ATF, et al. The Association of Depression and Anxiety with Pain: A Study from NESDA. Sun HS, ed. PLoS ONE. October 15, 2014; 9(10):e106907. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198088/.