Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome

Abstract

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by limb anomalies, abnormalities of the lacrimal ducts, malformed ears and deafness, and tooth abnormalities. Most frequent are malformed thumbs, including aplasia, hypoplasia, bifid, and triphalangeal thumb. Thenar muscle hypoplasia and synostosis of interphalangeal joints can be a minor manifestation. Syndactyly of fingers II/III and clinodactyly of fingers III–V are seen. The radius and ulna may be short. The lower limbs are less commonly affected, but halluces are broad and syndactyly may occur. Hypoplasia, atresia, and aplasia of the nasolacrimal ducts are a common feature, resulting in dacryocystitis, tear deficiency, recurrent or chronic conjunctivitis, keratoconjunctivitis sicca, and corneal ulcerations. The salivary glands may also be affected, resulting in poor saliva production, dry mouth, caries, and oral candidiasis. Other features of this condition include dental anomalies such as small and peg-shaped lateral maxillary incisors, mild enamel dysplasia, hypodontia, and microdontia. Abnormalities of the parotid glands, including absent Stensen duct or parotid gland aplasia, may occur. External ear anomalies including cup-shaped, small, and low-set ears are a common feature, often associated with sensorineural, conductive, or mixed-type hearing loss. Facial features include a broad forehead, hypertelorism, telecanthus, and downward slanting palpebral fissures.