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.

See: Condition Record

LADD syndrome 1

Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

Recent clinical studies

Etiology

Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.

Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123

Lacrimal outflow dysgenesis.

Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337

Optic nerve hypoplasia with good visual acuity and visual field defects: a study of children of diabetic mothers.

Petersen RA, Walton DS
Arch Ophthalmol 1977 Feb;95(2):254-8. doi: 10.1001/archopht.1977.04450020055011. PMID: 836211

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Diagnosis

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

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

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

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: 31949313 Free PMC Article

Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.

Mohammad A
Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123

Lacrimal outflow dysgenesis.

Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337

Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome.

Azar T, Scott JA, Arnold JE, Robin NH
Ann Otol Rhinol Laryngol 2000 Aug;109(8 Pt 1):779-81. doi: 10.1177/000348940010900814. PMID: 10961813

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Prognosis

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.

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

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Clinical prediction guides

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

Kuroda Y, Uehara T, Enomoto Y, Naruto T, Matsumura N, Kurosawa K
Am J Med Genet A 2024 Nov;194(11):e63799. Epub 2024 Jun 23 doi: 10.1002/ajmg.a.63799. PMID: 38923342

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.

Lacrimal outflow dysgenesis.

Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337

ADULT syndrome allelic to limb mammary syndrome (LMS)?

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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