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lacrimo-auriculo-dento-digital syndrome (LADDS); Levy-Hollister syndrome
Pathology:
- ectodermal dysplasia
- heterogeneous group of disorders due to abnormal development of two or more ectodermal structures
Genetics:
- autosomal dominant
- associated with defects in FGFR2, FGFR3, FGF10
Clinical manifestations:
- aplastic/hypoplastic lacrimal & salivary glands & ducts
- cup-shaped ears
- hearing loss
- hypodontia & enamel hypoplasia
- distal limb segments anomalies
- other features may be present
- facial dysmorphism
- malformations of the kidney & respiratory system
- abnormal genitalia have been reported
- no craniosynostosis or severe syndactyly
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 49730
References
OMIM :accession 49730