Conditions / Syndrome
lacrimoauriculodentodigital syndrome 1
info · Syndrome
A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, e
A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
Signs and symptoms
- Hearing impairment
- Cupped ear
- Partial duplication of thumb phalanx
- Absent lacrimal punctum
- Microdontia
- Short thumb
- Alacrima
- Microtia
- Delayed eruption of primary teeth
- Broad hallux
Also known as: LEVY-HOLLISTER SYNDROME; Lacrimo-auriculo-dento-digital syndrome 1