lacrimoauriculodentodigital syndrome 2

info · Syndrome

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.

Signs and symptoms

Carious teeth
Hearing impairment
Lacrimal duct aplasia
Absent lacrimal punctum
Conjunctivitis
Microtia
Duplication of thumb phalanx
Cupped ear
Lacrimal duct atresia
Alacrima

Also known as: Lacrimo-auriculo-dento-digital syndrome 2