What major physical feature is indicative of Aarskog Syndrome?

Aarskog Syndrome is characterized by a specific set of physical features, and the shawl scrotum is one of the hallmark manifestations associated with this condition. Shawl scrotum refers to a characteristic appearance of the scrotum that resembles a shawl due to redundancy of skin, which may be evident in affected males. This distinct feature stems from the underlying connective tissue abnormality that is a fundamental part of Aarskog Syndrome.

The other physical features mentioned are associated with different genetic syndromes or conditions. Butterfly vertebrae are more commonly linked to conditions such as klippel-feil syndrome or other vertebral anomalies. A cleft palate is typically associated with syndromes like Van der Woude syndrome or orofacial clefting conditions but is not specifically indicative of Aarskog Syndrome. Ocular telangiectasia, characterized by small dilated blood vessels in the eyes, is often observed in conditions such as Ataxia-telangiectasia but is not a feature of Aarskog Syndrome. Thus, the presence of a shawl scrotum is a notable and defining physical characteristic specifically linked to Aarskog Syndrome.