Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient

G J McKenna, F M Burke, K. Mellan

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys.

CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies.

TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements.

FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

Original languageEnglish
Pages (from-to)35-9
Number of pages5
JournalEuropean Archives of Paediatric Dentistry
Issue numberIssue 1 Supplement
Publication statusPublished - Nov 2009


  • Abnormalities, Multiple
  • Child
  • Composite Resins
  • Cuspid
  • Dental Materials
  • Dental Restoration, Permanent
  • Ear, External
  • Female
  • Fingers
  • Follow-Up Studies
  • Humans
  • Incisor
  • Lacrimal Apparatus
  • Syndrome
  • Tooth Abnormalities


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