QUIZ: No. 8, 08/03/2026

Diagnosis: Congenital Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome – Incomplete phenotype

Aplasia of Lacrimal and Salivary Glands (ALSG) Syndrome - ALSG syndrome – Mild phenotypic variant of LADD spectrum

Findings: There is dilatation of the right lacrimal sac, likely secondary to a congenital lacrimal drainage anomaly. Bilateral absence of the parotid glands and submandibular glands, with agenesis of the lacrimal glands. No abnormal soft tissue mass is identified in the expected locations of the major salivary or lacrimal glands. There are no features of infiltrative disease, no fatty replacement pattern, no gland enlargement.

Discussion

Ø  Lacrimo-Auriculo-Dento-Digital (LADD) syndrome is a rare congenital disorder characterized by abnormal development of the lacrimal apparatus and major salivary glands, often associated with ear, dental, and digital anomalies.

Ø  The key imaging feature is bilateral agenesis of the parotid and submandibular glands with lacrimal gland agenesis, which strongly suggests a congenital developmental anomaly rather than an acquired inflammatory or infiltrative process.

Ø  Lacrimal drainage abnormalities, such as lacrimal sac dilatation or nasolacrimal duct obstruction, are common in LADD syndrome and may present clinically with epiphora.

Ø  The syndrome shows variable phenotypic expression; while dental and digital anomalies may be present, some patients may only demonstrate lacrimal and salivary gland abnormalities with mild hearing loss, as in this case.

Ø  Important differentials include Sjögren syndrome, IgG4-related disease, sarcoidosis, and post-radiation gland atrophy, but these conditions typically demonstrate gland enlargement, fatty replacement, or residual glandular tissue rather than complete congenital absence.

Teaching pearl:

•Symmetric absence of major salivary glands on imaging should raise suspicion for congenital agenesis rather than inflammatory disease.

• When salivary gland agenesis is identified, always evaluate the lacrimal glands and lacrimal drainage system, as combined lacrimal and salivary gland abnormalities strongly suggest a congenital syndrome such as LADD syndrome.