Lacrimo-auriculo-dento-digital syndrome

Definition:

Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.

References:

[1]. D Lacombe, et al. Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. J Med Genet. 1993 Aug;30(8):700-3. [Content Brief]

[2]. Edyta Rohmann, et al. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. [Content Brief]

[3]. Imad Shams, et al. Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol Cell Biol. 2007 Oct;27(19):6903-12. [Content Brief]

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