lacrimo-auriculo-dento-digital syndrome

lacrimo-auriculo-dento-digital syndrome

An autosomal dominant form (OMIM:149730) of ectodermal dysplasia (a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures) characterised by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. Other findings include facial dysmorphism and malformations of the kidneys, lungs and genitalia.
 
Molecular pathology
Defects in FGF10 on chromosome 5p13-p12, which encodes fibroblast growth factor 10, cause LADDS.
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References in periodicals archive ?
Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome.
Clinical and radiographic features of the lacrimo-auriculo-dento-digital syndrome.
Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway.