Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review

Int J Pediatr Otorhinolaryngol. 2006 Jul;70(7):1307-14. doi: 10.1016/j.ijporl.2005.12.015. Epub 2006 Feb 7.


We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Choanal Atresia / diagnostic imaging*
  • Choanal Atresia / genetics
  • Choanal Atresia / pathology*
  • Family Health
  • Female
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Syndrome*
  • Tomography, X-Ray Computed
  • Tooth Abnormalities / diagnostic imaging
  • Tooth Abnormalities / genetics
  • Tooth Abnormalities / pathology