A case report on midline facial cleft associated with ambiguous genitalia and umbilical defect

Congenital midline facial anomalies are a rare group of disorders that are often accompanied by a constellation of other clinical anomalies, many of which have been recognized as syndromes. The index case is a child with midline facial defect with cleft palate associated with ambiguous genitalia and an umbilical defect. Differential diagnoses including Holoprocencephaly (HPE), Midline facial Plane defect, Oral-facial Digital syndrome, and Kallmanns syndrome are discussed. Although the most probable diagnosis is HPE, ambiguous genitalia and umbilical deformity are atypical findings which merit special mention.