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Popliteal pterygium syndrome(PPS)

MedGen UID:
78543
Concept ID:
C0265259
Disease or Syndrome
Synonym: PPS
SNOMED CT: Popliteal pterygium syndrome (66783006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: RIPK4, IRF6
 
Monarch Initiative: MONDO:0017435
Orphanet: ORPHA294963

Authors:

Additional description

From MedlinePlus Genetics
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).

People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.  https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Leonchuk SS, Novikov KI, Subramanyam KN, Shikhaleva NG, Pliev MK, Mundargi AV
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Diagnosis

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Therapy

Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
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Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article

Prognosis

Leonchuk SS, Novikov KI, Subramanyam KN, Shikhaleva NG, Pliev MK, Mundargi AV
J Pediatr Orthop B 2020 Jan;29(1):47-52. doi: 10.1097/BPB.0000000000000601. PMID: 30807513
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Froster-Iskenius UG
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Clinical prediction guides

Dinçer T, Gümüş E, Toraman B, Er İ, Yildiz G, Yüksel Z, Kalay E
Am J Med Genet A 2021 Jun;185(6):1691-1699. Epub 2021 Mar 13 doi: 10.1002/ajmg.a.62154. PMID: 33713555
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895
Pegelow M, Koillinen H, Magnusson M, Fransson I, Unneberg P, Kere J, Karsten A, Peyrard-Janvid M
Cleft Palate Craniofac J 2014 Jan;51(1):49-55. Epub 2013 Feb 8 doi: 10.1597/11-220. PMID: 23394314
Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
Am J Med Genet A 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338. PMID: 20803643

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