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Pterygium

MedGen UID:
46202
Concept ID:
C0033999
Disease or Syndrome; Finding
Synonym: Pterygia
 
HPO: HP:0001059
Monarch Initiative: MONDO:0005085

Definition

Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [from HPO]

Conditions with this feature

Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Kyphomelic dysplasia
MedGen UID:
140930
Concept ID:
C0432239
Disease or Syndrome
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.
Dyskeratosis congenita, X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Bruck syndrome 2
MedGen UID:
373129
Concept ID:
C1836602
Disease or Syndrome
Bruck syndrome-2 (BRKS2) is an autosomal recessive disorder characterized by osteoporosis, joint contractures at birth, fragile bones, and short stature (Van der Slot et al., 2003). For a discussion of genetic heterogeneity of Bruck syndrome, see Bruck syndrome-1 (BRKS1; 259450).
Bartsocas-Papas syndrome 1
MedGen UID:
337894
Concept ID:
C1849718
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Bruck syndrome 1
MedGen UID:
342431
Concept ID:
C1850168
Disease or Syndrome
Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.
Fowler syndrome
MedGen UID:
384026
Concept ID:
C1856972
Disease or Syndrome
The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).
Lethal Kniest-like syndrome
MedGen UID:
347372
Concept ID:
C1857100
Disease or Syndrome
Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by Arikawa-Hirasawa et al., 2001).
Dyskeratosis congenita, autosomal recessive 1
MedGen UID:
341705
Concept ID:
C1857144
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Familial pterygium of the conjunctiva
MedGen UID:
356779
Concept ID:
C1867441
Disease or Syndrome
Pterygium of the conjunctive refers to a wing-shaped thickening in the bulbar conjunctiva. The process begins near one corner of the eye, most commonly the inner canthus. The progressive head is typically fleshy and can infiltrate the cornea and block vision. Surgical excision is curative, although recurrence may occur after surgical removal (summary by Hecht and Shoptaugh, 1990).
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).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.

Professional guidelines

PubMed

Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
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J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Mohammed I
Ann Afr Med 2011 Jul-Sep;10(3):197-203. doi: 10.4103/1596-3519.84695. PMID: 21912002

Recent clinical studies

Etiology

Akbari M
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He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
Uba-Obiano CU, N Nwosu SN, Okpala NE
Niger J Clin Pract 2021 Aug;24(8):1206-1210. doi: 10.4103/njcp.njcp_89_21. PMID: 34397032
Van Acker SI, Van den Bogerd B, Haagdorens M, Siozopoulou V, Ní Dhubhghaill S, Pintelon I, Koppen C
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Arq Bras Oftalmol 2020 Jan-Feb;83(1):5-10. doi: 10.5935/0004-2749.20200001. PMID: 31531547

Diagnosis

He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
S Pai SV, Kishore A, Sen S, Sharma N, Tandon R
Cornea 2022 May 1;41(5):583-586. doi: 10.1097/ICO.0000000000002820. PMID: 34469339
Yu J, Syed ZA, Rapuano CJ
Eye Contact Lens 2021 Aug 1;47(8):434-441. doi: 10.1097/ICL.0000000000000813. PMID: 34224444
Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
Bodman MA
Clin Podiatr Med Surg 2004 Oct;21(4):663-87, viii. doi: 10.1016/j.cpm.2004.05.005. PMID: 15450905

Therapy

Saglik A, Koyuncu I, Yalcin H, Adibelli FM, Gonel A, Toptan M
Arq Bras Oftalmol 2020 Jan-Feb;83(1):5-10. doi: 10.5935/0004-2749.20200001. PMID: 31531547
Rezvan F, Khabazkhoob M, Hooshmand E, Yekta A, Saatchi M, Hashemi H
Surv Ophthalmol 2018 Sep-Oct;63(5):719-735. Epub 2018 Mar 16 doi: 10.1016/j.survophthal.2018.03.001. PMID: 29551597
Mohammed I
Ann Afr Med 2011 Jul-Sep;10(3):197-203. doi: 10.4103/1596-3519.84695. PMID: 21912002
Hirst LW
Surv Ophthalmol 2003 Mar-Apr;48(2):145-80. doi: 10.1016/s0039-6257(02)00463-0. PMID: 12686302
Hill JC, Maske R
Eye (Lond) 1989;3 ( Pt 2):218-26. doi: 10.1038/eye.1989.31. PMID: 2695353

Prognosis

Akbari M
J Popul Ther Clin Pharmacol 2022;29(4):e30-e45. Epub 2022 Nov 9 doi: 10.47750/jptcp.2022.968. PMID: 36371649
Palewski M, Budnik A, Konopińska J
Int J Environ Res Public Health 2022 Sep 9;19(18) doi: 10.3390/ijerph191811357. PMID: 36141628Free PMC Article
He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
Sharma V, Tinna A, Singh A, Singh AK, Ambiya V
Indian J Ophthalmol 2022 Mar;70(3):783-787. doi: 10.4103/ijo.IJO_1895_21. PMID: 35225514Free PMC Article
Hirst L
Cornea 2021 Sep 1;40(9):1141-1146. doi: 10.1097/ICO.0000000000002545. PMID: 33009095

Clinical prediction guides

He X, Huang AS, Jeng BH
Curr Opin Ophthalmol 2022 Jan 1;33(1):9-14. doi: 10.1097/ICU.0000000000000814. PMID: 34698670
Magan T, Rapuano CJ, Ayres BD, Skeens HM, Goyal V, Heersink S, Meghpara BB, Syed ZA, Eagle RC Jr, Milman T
Am J Ophthalmol 2021 Sep;229:120-126. Epub 2021 Apr 22 doi: 10.1016/j.ajo.2021.04.006. PMID: 33895150
Coroneo MT, Tat L, Chen H, Grupchev DI, Grupcheva CN, Ip MH
Ocul Surf 2021 Jan;19:63-67. Epub 2020 Dec 10 doi: 10.1016/j.jtos.2020.12.001. PMID: 33309855
Saglik A, Koyuncu I, Gonel A, Yalcin H, Adibelli FM, Toptan M
Int Ophthalmol 2019 Oct;39(10):2325-2333. Epub 2019 Jan 8 doi: 10.1007/s10792-018-01069-2. PMID: 30617855
Kiliç R, Kurt A, Tad M, Taşdemir S
Cornea 2017 Jun;36(6):696-699. doi: 10.1097/ICO.0000000000001183. PMID: 28410547

Recent systematic reviews

Alves M, Asbell P, Dogru M, Giannaccare G, Grau A, Gregory D, Kim DH, Marini MC, Ngo W, Nowinska A, Saldanha IJ, Villani E, Wakamatsu TH, Yu M, Stapleton F
Ocul Surf 2023 Jul;29:1-52. Epub 2023 Apr 14 doi: 10.1016/j.jtos.2023.04.007. PMID: 37062427
Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Litaiem N, Baklouti M, Zeglaoui F
Clin Dermatol 2022 Nov-Dec;40(6):706-715. Epub 2022 Jul 28 doi: 10.1016/j.clindermatol.2022.07.008. PMID: 35907576
Khanna RK, Catanese S, Emond P, Corcia P, Blasco H, Pisella PJ
Surv Ophthalmol 2022 Jul-Aug;67(4):1229-1243. Epub 2022 Jan 31 doi: 10.1016/j.survophthal.2022.01.010. PMID: 35093405
Rezvan F, Khabazkhoob M, Hooshmand E, Yekta A, Saatchi M, Hashemi H
Surv Ophthalmol 2018 Sep-Oct;63(5):719-735. Epub 2018 Mar 16 doi: 10.1016/j.survophthal.2018.03.001. PMID: 29551597

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