lacrimo-auriculo-dento-digital syndrome

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lacrimo-auriculo-dento-digital syndrome2016-11-26T14:05:04+00:00

lacrimo-auriculo-dento-digital syndrome

DERMATOLOGY

An autosomal dominant (OMIM:149730) form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures, which is characterised by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. Other findings include facial dysmorphism, malformations of the kidneys, lungs and genitalia 

Molecular pathology Defects in:

• FGF10, which encodes fibroblast growth factor 10 (OMIM:602115) 

• FGFR2, which encodes fibroblast growth factor receptor 3 (OMIM:176943)

• FGFR3, which encodes fibroblast growth factor receptor 3 (OMIM:134934), all cause LADDS

Synonyms LADDS, Levy-Hollister syndrome 

References http://www.uniprot.org/uniprot/O15520

http://www.omim.org/entry/149730

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