Bilateral microtia
Gene: FGF10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#149730:LADD syndrome [Broad forehead; Simple, cup-shaped ears; Hearing loss, mixed conductive-sensorineural; Alacrima (dry eye syndrome); Nasolacrimal duct obstruction; Aplastic/hypoplastic lacrimal puncta; Aplastic/hypoplastic lacrimal glands; Hypertelorism; Telecanthus; Downslanting palpebral fissures; Dacryocystitis; Partially reduced visually acuity; Recurrent corneal ulcerations; Corneal perforation; Limbal stem cell deficiency; Corneal sensitivity impairment (hypesthesia); Absent Stensen duct; Absent parotid gland; Dry mouth; Oral candidiasis; Hypodontia; Peg-shaped incisors; Enamel hypoplasia; Delayed eruption of primary teeth; Dental caries, severe; Coronal hypospadias; Renal agenesis; Nephrosclerosis; Short radius; Short ulna; Preaxial polydactyly; Digitalized thumb; Triphalangeal thumb; Thenar muscle hypoplasia; Syndactyly, 2-3 finger; Clinodactyly, 3,5 finger; Bifid thumb; Broad halluces; Syndactyly, 2-3, 3-4 toe]; #180920:Aplasia of lacrimal and salivary glands [Dry conjunctival mucosae; Lacrimal gland aplasia/hypoplasia; Absent lacrimal gland puncta; Xerostomia; Salivary gland aplasia/hypoplasia; Absent parotid papillae; Dental caries; Nonreversible airway obstruction; Reduced forced expiratory volume in 1 second (FEV1); Reduced FEV1/inspiratory vital capacity (IVC) ratio]
Publications
MIM 602115Created: 3 Feb 2016, 4:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Causes LADD syndrome (lacrimo auriculo dento digital); syndromic features
Publications
This gene has been classified as Green List (High Evidence).
Publications for FGF10 were set to 16630169
Mode of inheritance for FGF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for FGF10 were set to Bilateral Microtia;149730
FGF10 was added to Bilateral Microtiapanel. Sources: Expert list