lacrimoauriculodentodigital syndrome 2 (DOID:0081371)
Alliance: disease page
Synonyms: Lacrimo-auriculo-dento-digital syndrome 2
Alt IDs: OMIM:620192
Definition: A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.