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Disease Profile
Popliteal pterygium 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.
Unknown
Age of onset
Antenatal
ICD-10
Q87.2
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)
PPS; Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies; Faciogenitopopliteal syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Popliteal pterygium
Popliteal pterygium syndrome is part of the IRF6-related disorders which also include Van der Woude 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 | ||
Cleft roof of mouth
|
0000175 | |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
30%-79% of people have these symptoms | ||
Abnormality of the nail | 0001597 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ] |
0009755 |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Fibrous syngnathia | 0009754 | |
Finger syndactyly | 0006101 | |
Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ] |
0000059 |
Lip pit | 0100267 | |
Nonketotic hyperglycinemia | 0008288 | |
Non-midline |
0100335 | |
Popliteal pterygium | 0009756 | |
0002650 | ||
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
5%-29% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Specific learning disability | 0001328 | |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cleft upper lip |
Harelip
|
0000204 |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ] |
0000013 |
Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
Intercrural pterygium | 0009757 | |
Lower lip pit | 0000196 | |
Pyramidal skinfold extending from the base to the top of the nails | 0009758 | |
Spina bifida occulta | 0003298 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- 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.
Related diseases
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
|
---|
Mildly affected AD-PPS patients have significant clinical overlap with Van der Woude syndrome (VWS), a disorder caused by deletions and mutations in the same gene (IRF6). In fact, affected individuals in the same family, having the same mutation in IRF6, have been diagnosed with AD-PPS and with VWS. The cause of this variable expressivity is not known. Bartsocas-Papas syndrome, CHAND syndrome and multiple pterygium syndrome should also be considered.
Visit the Orphanet disease page for more information.
|
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
-
About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: [email protected]
Website: https://www.aboutface.ca/ -
ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: [email protected]
Website: https://cleftline.org/ -
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: [email protected]
Website: https://ccakids.org/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Popliteal pterygium syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Popliteal pterygium syndrome. Click on the link to view a sample search on this topic.
References
- Popliteal pterygium syndrome. Genetics Home Reference. April 2008; https://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome.
- Ratbi I, Fejjal N, Legendre M, Collot N, Amselem S & Sefiani A. Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. Journal of Medical Case Reports. 2014; 8:471. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320515/.
- Schutte BC, Saal HM, Goudy S, Leslie E. IRF6-Related Disorders. GeneReviews. July 3, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1407/.