Conditions / Syndrome
lacrimoauriculodentodigital syndrome 3
info · Syndrome
A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5
A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
Signs and symptoms
- Carious teeth
- Absent lacrimal punctum
- Partial duplication of thumb phalanx
- Alacrima
- Lacrimal duct aplasia
- Cupped ear
- Epicanthus
- Absent eyelashes
- Feeding difficulties
- Microtia
Also known as: Lacrimo-auriculo-dento-digital syndrome 3