Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Some manifest only the congenital absence of tears, while others affect multiple organ systems and may involve severe developmental delay, intellectual disability, and potentially life-threatening autonomic dysregulation. To aid in the diagnosis for patients manifesting alacrima, we review the major causes and the various genetic disorders associated with alacrima and provide a differential template for diagnosis.
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Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review
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A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.
Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.