Diagnosis is clinical based on the
dysmorphic findings. This syndrome has some characteristics similar to the
Smith-Lemli-Opitz syndrome and the Aarskog-Scott syndrome. Affected patients
present with facies characterized by the presence of microphthalmia,
asymmetrical ears, anteverted nares, long flat philtrum associated with a
thin upper lip, and micrognathia. The thorax features an important pectus
excavatum and widely spaced nipples. The genitalia defect includes a
“saddlebag” configuration of the scrotum associated with a prominent raphe
and hypospadias. Other minor anomalies include the widening of the thumbs
and great toes with hypoplastic nails and the presence of a prominent crease
on the ventral aspect of the feet. No skeletal, renal, or cardiac anomalies
noted.