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Multiple pterygia

MedGen UID:
357990
Concept ID:
C1867448
Finding
Synonym: Pterygia, multiple
 
HPO: HP:0001040

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple pterygia

Conditions with this feature

X-linked lethal multiple pterygium syndrome
MedGen UID:
374225
Concept ID:
C1839440
Disease or Syndrome
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.
Lethal multiple pterygium syndrome
MedGen UID:
381473
Concept ID:
C1854678
Disease or Syndrome
Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nIn people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
Spondylospinal thoracic dysostosis
MedGen UID:
400937
Concept ID:
C1866184
Disease or Syndrome
Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
MedGen UID:
401232
Concept ID:
C1867440
Disease or Syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene.
Short stature-craniofacial anomalies-genital hypoplasia syndrome
MedGen UID:
357988
Concept ID:
C1867443
Disease or Syndrome
Pterygia, impaired intellectual development, and distinctive craniofacial features is a chromosomal disorder characterized by these cardinal features. Craniofacial features include trigonocephaly and retrognathia. Intellectual development may be severely impaired (summary by Devriendt et al., 2000).

Professional guidelines

PubMed

Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC
Am J Med Genet A 2013 Oct;161A(10):2535-2544. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36133. PMID: 23949966Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2012 Mar;51(1):12-7. doi: 10.1016/j.tjog.2012.01.004. PMID: 22482962
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J Med Genet 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378. PMID: 22167768

Recent clinical studies

Etiology

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article
Fryns JP, Volcke P, van den Berghe H
Eur J Pediatr 1988 Jun;147(5):550-2. doi: 10.1007/BF00441989. PMID: 3409934
Robinson LK, O'Brien NC, Puckett MC, Cox MA
Clin Genet 1987 Jul;32(1):5-9. doi: 10.1111/j.1399-0004.1987.tb03315.x. PMID: 3621655
Mbakop A, Cox JN, Störmann C, Delozier-Blanchet CD
Am J Med Genet 1986 Nov;25(3):575-9. doi: 10.1002/ajmg.1320250321. PMID: 3789017

Diagnosis

Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO
Clin Genet 2024 Jun;105(6):596-610. Epub 2024 Jan 26 doi: 10.1111/cge.14490. PMID: 38278647
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K
Am J Med Genet A 2020 Nov;182(11):2605-2610. Epub 2020 Sep 9 doi: 10.1002/ajmg.a.61836. PMID: 32902138
Sözbilen MC, Günay H, Çalış FA
Eklem Hastalik Cerrahisi 2016 Dec;27(3):171-4. doi: 10.5606/ehc.2016.34. PMID: 27902173
de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP
Genet Couns 1990;1(1):13-23. PMID: 2222917
Zeitune M, Fejgin MD, Abramowicz J, Ben Aderet N, Goodman RM
Prenat Diagn 1988 Feb;8(2):145-9. doi: 10.1002/pd.1970080208. PMID: 3283718

Prognosis

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article
Ural ÜM, Tekın YB, Kir Şahın F, Erdıvanli B, Kazdal H
Gynecol Obstet Invest 2015;79(1):69-72. Epub 2014 Sep 4 doi: 10.1159/000365330. PMID: 25196531
Martínez-Barrera LE, Morán-Barroso VF, Perezpeña-Díazconti M, Zuñiga-Rodríguez FG, Manzano-Sierra C, García-Delgado C
Genet Couns 2014;25(3):321-30. PMID: 25365855
Baynam G, Smith N, Goldblatt J
Am J Med Genet A 2008 Sep 1;146A(17):2301-3. doi: 10.1002/ajmg.a.32443. PMID: 18671283
Fryns JP, Volcke P, van den Berghe H
Eur J Pediatr 1988 Jun;147(5):550-2. doi: 10.1007/BF00441989. PMID: 3409934

Clinical prediction guides

Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO
Clin Genet 2024 Jun;105(6):596-610. Epub 2024 Jan 26 doi: 10.1111/cge.14490. PMID: 38278647
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. PMID: 25957469Free PMC Article
Baynam G, Smith N, Goldblatt J
Am J Med Genet A 2008 Sep 1;146A(17):2301-3. doi: 10.1002/ajmg.a.32443. PMID: 18671283
Witters I, Moerman P, Devriendt K, Braet P, Van Schoubroeck D, Van Assche FA, Fryns JP
Am J Med Genet 2002 Feb 15;108(1):41-4. PMID: 11857548

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