A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. [ncbi.nlm.nih.gov]

Abstract Patients with Van der Woude syndrome typically present with cleft lip, cleft lip and palate, or with cleft palate only. [onlinelibrary.wiley.com]

• Nail Abnormality

  It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome. [ncbi.nlm.nih.gov]

  abnormalities - Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions [books.google.de]

  PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.[6] References ^ pediatrics ^ medterms.com ^ J Pediatr Orthop B 2004, 13:197-201. ^ J Med Genet 1990 [bionity.com]

  PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.[7] Diagnosis[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

  PPS includes all the features of VWS, plus popliteal pterygium, syndactyly, distinct toe/nail abnormality, syngnathia, and genitourinary malformations [5]. The cause of VWS is a mutation in the IRF6 gene of the long arm of chromosome 1 (1q32.3-q4). [cureus.com]

• Trisomy 21

  Neck pterygia are associated with trisomy 21, trisomy 13, and Turner's syndrome [2]. Other syndromes specifically associated with pterygia include popliteal pterygium syndrome and Escobar syndrome (multiple pterygium syndrome) [2]. [ajronline.org]

• Congenital Ankyloblepharon

  Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. [uniprot.org]

  Abnormalities associated with it include cleft lip/palate, lower lip pits or cysts, syngnathia, congenital ankyloblepharon, scrotal and labial abnormalities, cryptorchidism, popliteal webbing, telipes equinovarus, syndactyly and nail anomalies [ 1, 4 [casereports.in]

• Brachydactyly

  Deformities in the digits of the hands and feet, such as syndactyly, digit hypoplasia, and brachydactyly, may also be observed. [scielo.br]

• Suggestibility

  However, the presence of a pyramidal fold of skin over the nail of the hallux in family members suggested the diagnosis of popliteal pterygium syndrome. [ncbi.nlm.nih.gov]

• Cryptorchidism

  […] complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism [pediatrics.aappublications.org]

  […] condition of neonatal onset and variable penetration and clinical expression Clinical A fibrous cord extends from the heel to the ischial tuberosity, limiting leg movement, accompanied by syndactyly, bone malformation, club feet, cleft lip and palate, cryptorchidism [medical-dictionary.thefreedictionary.com]

  Talipes, spina bifida occulta, bifid ribs, and short sternum have also been reported. [3] Genitourinary anomalies have been reported in both female and male patients. [3] In males these include uni- or bilateral cryptorchidism and bifid or absent scrotum [jisppd.com]

  Cryptorchidism may lead to infertility. [casereports.in]

The various treatments our patient underwent over the years are reported. [ncbi.nlm.nih.gov]

The choice of treatment method for popliteal pterygium of PPS may be difficult, but in general surgical treatment is preferred because the conservative treatments, including serial casting or traction, have unsatisfactory outcomes. [cureus.com]

What are the treatment options for popliteal pterygium syndrome? The treatment for popliteal pterygium syndrome is largely surgical. There is a minor role for observation in children with milder cases causing less functional impairment. [limblength.org]

Today, the prognosis and treatment of individuals with VWS are excellent. The prognosis of individuals with PPS will depend on severity. [cureus.com]

The prognosis is generally good, with normal mental development and the possibility to correct most of the alterations through targeted surgery. [ncbi.nlm.nih.gov]

When popliteal pterygium syndrome is treated in a timely and appropriate manner by a multidisciplinary team, a good prognosis is observed. Keywords : Pterygim; Cleft lip; Cleft palate. [scielo.br]

The prognosis is generally good. Growth and mental development are expected to be normal. However, the prognosis for physical disabilities depends on the severity of the pterygium, genital abnormalities and orofacial defect. [mdpi.com]

Ankyloblepharon and cryptophthalmos must be distinguished from each other as syndromic diagnosis is different as also the prognosis for normal vision. [link.springer.com]

Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.de]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

Eshete MA, Adeyemo WL, Aregbesola B, Donkor P, Arthur FK, Agbenorku P, Olutayo J, Twumasi P, Braimah R, Oti AA, Plange-Rhule G, Obiri-Yeboah S, Abate F, Hoyte-Williams PE, Hailu T, Murray JC, Butali A タイトル The prevalence, penetrance, and expressivity of etiologic [genome.jp]

Thoughts on the etiology of clefts of the palate and lip. Acta Genetica 5, 358–369 (1955). CAS Google Scholar Bocian, M. & Walker, A.P. Lip pits and deletion 1q32–q41. Am. J. Med. Genet. 26, 437–443 (1987). [nature.com]

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. [bionity.com]

(May 2017) Epidemiology[edit] 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 have the syndrome. [en.wikipedia.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. [genome.jp]

Epidemiology DVWS has a variable expressivity and a high penetrance ranging from 89% to 99%. The prevalence in general population varies from 1:35,000 to 1:100,000 live births [ 14 ]. [omicsonline.org]

These patients have special dental needs and early diagnosis of the affected children is therefore important in order to initiate preventive dental care and carry out appropriate dental treatment at the optimal time. [ncbi.nlm.nih.gov]

India Date of Web Publication 21-Oct-2011 Correspondence Address: S K Bahetwar C/o, Department of Pediatric and Preventive Dentistry, SDKS Dental College and Hospital, Hingna, Nagpur. [jisppd.com]

Determining the relative risk of cleft lip and palate, on the basis of genetic background and environmental influence, including smoking, alcohol use, and dietary factors, will aid in genetic counselling and the development of future preventive measures [hkmj.org]

Additionally, MRI scans of the knee may be helpful in the setting of operative planning, as the location of essential nerves and blood vessels may be mapped out, preventing injury during surgical resection of the pterygium. [limblength.org]

This did not prevent him from having a very active life. There was no cleft lip or palate in either of these men. [jmg.bmj.com]