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Lacrimoauriculodentodigital syndrome

Synonym(s) LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Antenatal
  • Q87.8
  • C0265269
MeSH -
MedDRA -


LADD is an acronym for Lacrymo-Auriculo-Dento-Digital. It has been reported in about 20 cases from seven families. Six out of seven of these families contained two or more affected patients from two or three generations. The lacrimal features are obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrymia. Aplasia or hypoplasia of the salivary glands may also be present, leading to dry mouth and early onset of severe dental caries. Poor saliva production may necessitate a drink being taken to allow swallowing of dry food. The auricular features are cup-shaped pinnas with sensorineural or mixed hearing deficit. The dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. Agenesis of the upper lateral incisors has also been described. The digital features are variable, including fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. LARD (Lacrymo-Auriculo-Radio-Dental) has been proposed as an alternative acronym as unilateral radial aplasia, or radial-ulnar synostosis have also been reported. Congenital renal disease causing death in the neonatal period, cleft lip and palate, and hypospadias are uncommon features. A complex thoracic malformation was reported in one case with right diaphragmatic palsy (also present in an asymptomatic form in the mother), hypoplasia of the left lung vasculature without bronchial anomalies, mild hypoplasia of the left pulmonary artery, and, on echocardiography, aneurysm of the interventricular septum. LADD syndrome is a dominantly inherited condition but the genetic basis of the syndrome is still unknown. After the birth of an index case, the disorder may be recognized prenatally by ultrasonography revealing radial aplasia and a typical profile with the minimum diagnostic criteria of a high forehead and pronounced micrognathia. Prenatal ultrasound should be offered to families at risk so that severe forms of the syndrome, for which termination of pregnancy might be considered, are detected early. The great variability of the expression of this syndrome necessitates caution in genetic counselling.

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