Popliteal pterygium syndrome

Jump to: navigation, search
Popliteal pterygium syndrome
ICD-10 Q79.8
(EUROCAT Q79.82)
ICD-9 756.89
OMIM 119500
DiseasesDB 33503

WikiDoc Resources for Popliteal pterygium syndrome

Articles

Most recent articles on Popliteal pterygium syndrome

Most cited articles on Popliteal pterygium syndrome

Review articles on Popliteal pterygium syndrome

Articles on Popliteal pterygium syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Popliteal pterygium syndrome

Images of Popliteal pterygium syndrome

Photos of Popliteal pterygium syndrome

Podcasts & MP3s on Popliteal pterygium syndrome

Videos on Popliteal pterygium syndrome

Evidence Based Medicine

Cochrane Collaboration on Popliteal pterygium syndrome

Bandolier on Popliteal pterygium syndrome

TRIP on Popliteal pterygium syndrome

Clinical Trials

Ongoing Trials on Popliteal pterygium syndrome at Clinical Trials.gov

Trial results on Popliteal pterygium syndrome

Clinical Trials on Popliteal pterygium syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Popliteal pterygium syndrome

NICE Guidance on Popliteal pterygium syndrome

NHS PRODIGY Guidance

FDA on Popliteal pterygium syndrome

CDC on Popliteal pterygium syndrome

Books

Books on Popliteal pterygium syndrome

News

Popliteal pterygium syndrome in the news

Be alerted to news on Popliteal pterygium syndrome

News trends on Popliteal pterygium syndrome

Commentary

Blogs on Popliteal pterygium syndrome

Definitions

Definitions of Popliteal pterygium syndrome

Patient Resources / Community

Patient resources on Popliteal pterygium syndrome

Discussion groups on Popliteal pterygium syndrome

Patient Handouts on Popliteal pterygium syndrome

Directions to Hospitals Treating Popliteal pterygium syndrome

Risk calculators and risk factors for Popliteal pterygium syndrome

Healthcare Provider Resources

Symptoms of Popliteal pterygium syndrome

Causes & Risk Factors for Popliteal pterygium syndrome

Diagnostic studies for Popliteal pterygium syndrome

Treatment of Popliteal pterygium syndrome

Continuing Medical Education (CME)

CME Programs on Popliteal pterygium syndrome

International

Popliteal pterygium syndrome en Espanol

Popliteal pterygium syndrome en Francais

Business

Popliteal pterygium syndrome in the Marketplace

Patents on Popliteal pterygium syndrome

Experimental / Informatics

List of terms related to Popliteal pterygium syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the knee). [1]

Clinical Features

Clinical expressions of PPS are highly variable, but include the following:[2][3]

Epidemiology

The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. Since the disorder is very rare, its incidence rate is difficult to estimate, but is less than 1 in 10,000.[4]

Genetics

Popliteal pterygium syndrome is inherited in an autosomal dominant pattern.

The genetic locus for PPS was localized to chromosome 1 in 1999. The disorder is inherited in an autosomal dominant manner and is due to mutation of the IRF6 gene. Most reported cases are sporadic; advanced parental age is found in a number of these cases, suggesting new mutations.

The term PPS has also been used for two rare autosomal recessively inherited conditions: Lethal PPS and PPS with Ectodermal Dysplasia. Although both conditions feature a cleft lip/palate, syngnathia, and popliteal pterygium, they are clinically distinguishable from the autosomal dominant case. Lethal PPS is differentiated by microcephaly, corneal aplasia, ectropion, bony fusions, hypoplastic nose, and absent thumbs, while PPS with Ectodermal Dysplasia is differentiated by woolly hair, brittle nails, ectodermal anomalies, and fissure of the sacral vertebrae.[5]

Relationship to Van der Woude syndrome

Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.[6]

References

  1. pediatrics
  2. medterms.com
  3. J Pediatr Orthop B 2004, 13:197-201.
  4. J Med Genet 1990; 27:320-6.
  5. Brit J Oral Maxillofacial Surg 1998; 36:138-40.
  6. Hong Kong Med J 2004; 10(5):331-6.

Cleft lip and palate Microchapters

Home

Patient Information

Overview

Pathophysiology

Causes

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Treatment

Surgery

Psychosocial Issues

Primary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Popliteal pterygium syndrome On the Web

Most recent articles

cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Popliteal pterygium syndrome

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Popliteal pterygium syndrome

CDC on Popliteal pterygium syndrome

Popliteal pterygium syndrome in the news

Blogs on Popliteal pterygium syndrome

Directions to Hospitals Treating Cleft lip and palate

Risk calculators and risk factors for Popliteal pterygium syndrome

Cost Effectiveness of Popliteal pterygium syndrome

| group5 = Clinical Trials Involving Popliteal pterygium syndrome | list5 = Ongoing Trials on Popliteal pterygium syndrome at Clinical Trials.govTrial results on Popliteal pterygium syndromeClinical Trials on Popliteal pterygium syndrome at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Popliteal pterygium syndrome | list6 = US National Guidelines Clearinghouse on Popliteal pterygium syndromeNICE Guidance on Popliteal pterygium syndromeNHS PRODIGY GuidanceFDA on Popliteal pterygium syndromeCDC on Popliteal pterygium syndrome


| group7 = Textbook Information on Popliteal pterygium syndrome | list7 = Books and Textbook Information on Popliteal pterygium syndrome


| group8 = Pharmacology Resources on Popliteal pterygium syndrome | list8 = AND (Dose)}} Dosing of Popliteal pterygium syndromeAND (drug interactions)}} Drug interactions with Popliteal pterygium syndromeAND (side effects)}} Side effects of Popliteal pterygium syndromeAND (Allergy)}} Allergic reactions to Popliteal pterygium syndromeAND (overdose)}} Overdose information on Popliteal pterygium syndromeAND (carcinogenicity)}} Carcinogenicity information on Popliteal pterygium syndromeAND (pregnancy)}} Popliteal pterygium syndrome in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Popliteal pterygium syndrome


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Popliteal pterygium syndrome | list9 = AND (pharmacogenomics)}} Genetics of Popliteal pterygium syndromeAND (pharmacogenomics)}} Pharmacogenomics of Popliteal pterygium syndromeAND (proteomics)}} Proteomics of Popliteal pterygium syndrome


| group10 = Newstories on Popliteal pterygium syndrome | list10 = Popliteal pterygium syndrome in the newsBe alerted to news on Popliteal pterygium syndromeNews trends on Popliteal pterygium syndrome


| group11 = Commentary on Popliteal pterygium syndrome | list11 = Blogs on Popliteal pterygium syndrome

| group12 = Patient Resources on Popliteal pterygium syndrome | list12 = Patient resources on Popliteal pterygium syndromeDiscussion groups on Popliteal pterygium syndromePatient Handouts on Popliteal pterygium syndromeDirections to Hospitals Treating Popliteal pterygium syndromeRisk calculators and risk factors for Popliteal pterygium syndrome


| group13 = Healthcare Provider Resources on Popliteal pterygium syndrome | list13 = Symptoms of Popliteal pterygium syndromeCauses & Risk Factors for Popliteal pterygium syndromeDiagnostic studies for Popliteal pterygium syndromeTreatment of Popliteal pterygium syndrome

| group14 = Continuing Medical Education (CME) Programs on Popliteal pterygium syndrome | list14 = CME Programs on Popliteal pterygium syndrome

| group15 = International Resources on Popliteal pterygium syndrome | list15 = Popliteal pterygium syndrome en EspanolPopliteal pterygium syndrome en Francais

| group16 = Business Resources on Popliteal pterygium syndrome | list16 = Popliteal pterygium syndrome in the MarketplacePatents on Popliteal pterygium syndrome

| group17 = Informatics Resources on Popliteal pterygium syndrome | list17 = List of terms related to Popliteal pterygium syndrome


}}



Linked-in.jpg