[MIM 180 920]

Incidence: < 1/106. Autosomal dominant transmission of a mutation of the FGF10 gene (5p12). Lacrimo-auriculo-dento-digital syndrome (see this term),  when linked to the FGF10 gene, is a more severe allelic form.

Association of:

• hypoplasia, atresia or aplasia of the lacrimal tract: epiphora or chronic conjunctivitis
• hypoplasia or aplasia of the parotid and submandibular glands: xerostomia, dental caries

A few cases of early obstructive COPD-like respiratory syndrome have been reported.

Anesthetic implications:

fragile teeth, eye protection (artificial gel or tears); check lung function

References : 

-        Klar J, Blomstrand P, Brunmark C, Badhai J, Hakansson HF, Brange  CS, Bergendal B, Dahl N. 
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease. 
J Med Genet 2011 ; 48: 705-9.

Updated: August 2022