Lacrimoauriculodentodigital Syndrome with Cleft Lip/Palate and Renal Manifestations

Abstract

Objective

To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome.

Design

A family study of eight individuals with LADD syndrome.

Setting

Pediatric Clinical Research Center at Oakland Children's Hospital.

Patients

Eight individuals in a four-generation family.

Main Outcome Measure

A diagnosis of LADD syndrome was determined by the presence of one or more of the characteristic lacrimal duct, auricular, dental, or digital malformations. Tear function and orofacial clefting were also considered in the final diagnosis of LADD syndrome.

Results

Affected family members had the characteristic features of LADD syndrome, including cup-shaped ears; lacrimal duct obstruction; and dental, forearm, and digit malformations. In addition to the cardinal features of LADD syndrome, the proband was born with cleft lip and palate. The mother and sister of the proband have hydronephrosis, a rare feature of the disorder. Family members also have features not previously described in LADD syndrome, including vesicoureteral reflux, recurrent urinary tract infections, camptodactyly, distal thumb symphalangism, and a bicornuate uterus.

Conclusions

The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.