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Hypoplastic lacrimal duct

MedGen UID:
368837
Concept ID:
C1968574
Finding
Synonym: Underdeveloped tear duct
 
HPO: HP:0007900

Term Hierarchy

Conditions with this feature

Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
MedGen UID:
444003
Concept ID:
C2931214
Disease or Syndrome
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Recent clinical studies

Etiology

Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337
Petersen RA, Walton DS
Arch Ophthalmol 1977 Feb;95(2):254-8. doi: 10.1001/archopht.1977.04450020055011. PMID: 836211

Diagnosis

Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ
Eur J Med Genet 2024 Apr;68:104911. Epub 2024 Jan 26 doi: 10.1016/j.ejmg.2024.104911. PMID: 38281558
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S
Genet Med 2020 May;22(5):867-877. Epub 2020 Jan 17 doi: 10.1038/s41436-019-0743-3. PMID: 31949313Free PMC Article
Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123
Elmann S, Hanson SA, Bunce CN, Shinder R
Ophthalmic Plast Reconstr Surg 2015 Mar-Apr;31(2):e35-7. doi: 10.1097/IOP.0000000000000060. PMID: 24801258
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337

Prognosis

Kantaputra PN, Kaewgahya M, Wiwatwongwana A, Wiwatwongwana D, Sittiwangkul R, Iamaroon A, Dejkhamron P
Am J Med Genet A 2014 Sep;164A(9):2370-7. Epub 2014 Jun 24 doi: 10.1002/ajmg.a.36630. PMID: 24962763

Clinical prediction guides

Kantaputra PN, Kaewgahya M, Wiwatwongwana A, Wiwatwongwana D, Sittiwangkul R, Iamaroon A, Dejkhamron P
Am J Med Genet A 2014 Sep;164A(9):2370-7. Epub 2014 Jun 24 doi: 10.1002/ajmg.a.36630. PMID: 24962763
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337
Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K
Am J Med Genet 2000 Jan 17;90(2):179-82. PMID: 10607963

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