Gardner-Silengo-Wachtel syndrome, also known as genito-palato-cardiac syndrome, is a rare male (46XY) gonadal dysgenesis condition that is assumed to be either an X-linked recessive or an autosomal recessive disorder 1.
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Epidemiology
The estimated incidence is at <1 in 1,000,000 live births.
Pathology
Associations
cystic disease affecting both kidneys
low-set ears
flexion deformities of the thumbs
History and etymology
Gardner et al. first described a phenotypic female with cleft palate, micrognathia, kyphoscoliosis, and club feet in 1970 while Silengo et al. first proposed the chromosomal origin of the syndrome in 1974. Greenberg et al. was the first to use the term Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome in 1987 1.
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