Lacrimoauriculodentodigital syndrome

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Synonyms: LADD syndrome | LARD syndrome | Lacrimoauriculoradiodental syndrome | Levy-Hollister syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia aplasia or atresia of the lacrimal system anomalies of the ears with sensorineural or mixed hearing loss hypoplasia aplasia or atresia of the salivary glands dental anomalies and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly duplication of the distal phalanx of the thumb triphalangeal thumb and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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