lacrimoauriculodentodigital syndrome 1

Term ID

DOID:0050331

Synonyms

• Lacrimo-auriculo-dento-digital syndrome 1
• lacrimoauriculodentodigital syndrome
• LEVY-HOLLISTER SYNDROME

Definition

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. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome

References

• OMIM:149730

Ontology

Human Disease   ( DOID:0050331 )