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Lymphangiectasis

MedGen UID:
9827
Concept ID:
C0024214
Disease or Syndrome
Synonym: Lymphangiectasia
SNOMED CT: Lymphangiectasis (48087001); Lymphangiectasia (48087001)
 
HPO: HP:0031842
Monarch Initiative: MONDO:0006840

Definition

Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. [from HPO]

Conditions with this feature

Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
MPI-congenital disorder of glycosylation
MedGen UID:
400692
Concept ID:
C1865145
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.

Professional guidelines

PubMed

Kwon Y, Kim ES, Choe YH, Kim MJ
BMC Pediatr 2021 Jan 7;21(1):21. doi: 10.1186/s12887-020-02447-5. PMID: 33407260Free PMC Article
Vetrano DL, Zucchelli A, Marconi E, Levi M, Pegoraro V, Cataldo N, Heiman F, Cricelli C, Lapi F
Aging Clin Exp Res 2020 Nov;32(11):2211-2216. Epub 2020 Jan 1 doi: 10.1007/s40520-019-01454-6. PMID: 31893385
Chen TK, Wu CH, Lee CL, Lai YC, Yang SS
J Formos Med Assoc 1999 Apr;98(4):261-4. PMID: 10389370

Recent clinical studies

Etiology

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Jones GE, Mansour S
Clin Med (Lond) 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. PMID: 29196357Free PMC Article
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Diagnosis

Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Swann PG, Han T
Clin Exp Optom 2018 May;101(3):418-419. Epub 2017 Dec 12 doi: 10.1111/cxo.12647. PMID: 29232763
Jones GE, Mansour S
Clin Med (Lond) 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. PMID: 29196357Free PMC Article
Yuan SM
J Perinat Med 2017 Dec 20;45(9):1023-1030. doi: 10.1515/jpm-2016-0407. PMID: 28258976
Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B
Paediatr Respir Rev 2014 Sep;15(3):275-80. Epub 2014 May 29 doi: 10.1016/j.prrv.2014.05.002. PMID: 24997116

Therapy

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Vasani RJ, Khanna D, Singal A
Dermatol Ther 2012 Jul-Aug;25(4):358-75. doi: 10.1111/j.1529-8019.2012.01532.x. PMID: 22950563
Ashraf K, Raza SS, Ashraf O, Memon W, Memon A, Zubairi TA
Br J Radiol 2007 Jun;80(954):e117-8. doi: 10.1259/bjr/16931054. PMID: 17684071
Knelson JH, De Lemos RA, Avery ME
Dis Mon 1969 Mar:1-44. doi: 10.1016/s0011-5029(69)80014-3. PMID: 4888638

Prognosis

Bertolizio G, Engelhardt T, Veyckemans F
Paediatr Anaesth 2022 Feb;32(2):138-147. Epub 2021 Nov 11 doi: 10.1111/pan.14325. PMID: 34738691
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Xiao ZY, Tao Y, Tang XY, Chen GJ, Guo L
World J Pediatr 2009 Feb;5(1):68-70. Epub 2009 Jan 27 doi: 10.1007/s12519-009-0014-5. PMID: 19172338
Ashraf K, Raza SS, Ashraf O, Memon W, Memon A, Zubairi TA
Br J Radiol 2007 Jun;80(954):e117-8. doi: 10.1259/bjr/16931054. PMID: 17684071
Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089Free PMC Article

Clinical prediction guides

Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
Ji Y, Chen S, Peng S, Xia C, Li L
Orphanet J Rare Dis 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9. PMID: 31277673Free PMC Article
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Luisi F, Torre O, Harari S
Eur Respir Rev 2016 Jun;25(140):170-7. doi: 10.1183/16000617.0018-2016. PMID: 27246594Free PMC Article
Ashraf K, Raza SS, Ashraf O, Memon W, Memon A, Zubairi TA
Br J Radiol 2007 Jun;80(954):e117-8. doi: 10.1259/bjr/16931054. PMID: 17684071

Recent systematic reviews

Feng H, Zou L, Zhai X, Zhang S, Li J
BMC Gastroenterol 2022 May 15;22(1):246. doi: 10.1186/s12876-022-02318-6. PMID: 35570283Free PMC Article

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