A to Z of syndromes

A-Z of syndromes: Opitz-Frias syndrome

Insight into this genetic condition that causes several abnormalities in the midsection of the body of children. 

Opitz-Frias syndrome, also known as Opitz G/BBB, G syndrome and hypertelorism-hypospadias syndrome, is a genetic condition that causes several abnormalities in the midline of the body. It occurs as a result of a genetic mutation and more rarely as an autosomal dominant trait. Less severe cases are often not recognised or diagnosed.

Common characteristics include widely spaced eyes, referred to as ocular hypertelorism; low set ears; oesophageal defects and abnormalities in the larynx. This latter combination can result in life-threatening aspiration pneumonia and equally serious manifestations are renal abnormalities, cardiac anomalies and imperforate anus.

The syndrome can also be associated with an unusual inverted V hair line on the forehead called a widow's peak. Males with the syndrome can have genital abnormalities with hypospadias, undescended testicles and an underdeveloped scrotum.

Development slows

Infants are slower to develop and reach their


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