Lacrimoauriculodentodigital syndrome

Lacrimoauriculodentodigital (LADD) syndrome, also known as Levy-Hollister syndrome, is a rare genetic disorder that affects multiple body systems, as reflected in its name: the lacrimal (tear-producing) system, ears (auriculo-), teeth (dento-), and fingers and toes (digital). The condition is present from birth and is characterized by a distinctive combination of features involving these four organ systems. The lacrimal gland and duct abnormalities can lead to absent or reduced tear production (alacrima or hypolacrimia), chronic eye irritation, and recurrent eye infections. Ear anomalies include cup-shaped or low-set ears, hearing loss (which may be sensorineural, conductive, or mixed), and malformations of the external ear. Dental features include small teeth (microdontia), enamel hypoplasia, delayed eruption of teeth, and increased susceptibility to dental caries. Digital anomalies range from mild findings such as a broad or duplicated thumb to more significant limb malformations including syndactyly (fused fingers or toes), clinodactyly, and triphalangeal thumbs. Some patients may also have salivary gland abnormalities leading to dry mouth and kidney malformations. LADD syndrome is caused by mutations in genes involved in fibroblast growth factor (FGF) signaling, including FGFR2, FGFR3, and FGF10. Treatment is symptomatic and supportive, tailored to the specific features present in each individual. This may include artificial tears for dry eyes, surgical correction of lacrimal duct obstruction, hearing aids for hearing loss, dental interventions, and orthopedic management for limb anomalies. Regular monitoring by a multidisciplinary team including ophthalmologists, audiologists, dentists, and orthopedic specialists is recommended.

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