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. 

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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 milestones and there is an association with mild learning difficulties. Because of the X-linked mode of transmission there are more males with this condition and they seem to be affected more severely than females. The syndrome has been identified in all races.       

If the infant presents with an anomaly requiring surgery this would be the priority. An infant with a feeding difficulty is likely to be admitted to hospital for a nasogastric tube while investigations are undertaken. 

Opitz, the American geneticist the condition is named after, was prolific in his identification of syndromes and there are several conditions with ‘Opitz’ in the title. This can lead to confusion when families resort to internet research because Optiz-Frias is a specific syndrome.

Case study

Mustafa was a student studying in the UK who decided to have his family join him for the duration of his studies. His daughters quickly took to their new school, but the health visitor and nursery nurses were concerned that his son Ahmed was quite significantly behind what would normally be expected of a three-year-old. He showed little interest in play and his interaction with others was limited, even allowing for the language barrier. More worryingly, he was still in nappies and his mother seemed to shrug off any enquiry about toilet training. 

The health visitor spoke to the GP who invited the family to the surgery for an assessment. A translator was booked for the consultation. As soon as the GP saw Ahmed it was clear there were facial characteristics not shared by the rest of the family. He also noted a minor hypospadias and suspected the child had testicles that were not fully descended. With the family’s agreement, he referred Ahmed to the child development clinic and recommended that a geneticist, a urologist and a general surgeon all saw the family at the same time.

The genetics analysis results indicated Opitz-Frias syndrome and this was likely to be an X-linked transmission. The urologist felt that the hypospadias was so mild that repair was not immediately required and decided to defer any surgery to see if the penis grew straight or if the penile lengthening was going to be restricted by a tight chordee. The general surgeon was concerned about the undescended testicles because there were large inguinal canals present and the testes could slide up into the pelvic cavity. This increased the risk of torsion requiring emergency surgery. The parents were prepared to agree to surgery, but were reluctant to consider that Ahmed would need additional support to help him at nursery and later in school.

The geneticist was keen that the family was counselled on the risks of inherited transmission (in any future pregnancies for the parents or, potentially, the daughters).  Mustafa indicated he felt his family was complete, however any discussion about the risks inherent with future pregnancies was clearly unwelcome. In these circumstances, all that healthcare professionals can do is leave the door open should the family wish to return and seek additional guidance.

About the authors

Doreen Crawford is nurse adviser with consultancy Crawford McKenzie and Annette Dearmun is divisional head of nursing and clinical governance, Oxford University Hospitals NHS Trust. Both are consultant editors of Nursing Children and Young People

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