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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/49730