Anaesthetic implications of Aarskog-Scott syndrome

Introduction

Aarskog-Scott Syndrome (ASS – also known as Faciodigitogenital syndrome or Faciogenital dysplasia) is a rare genetically mediated syndrome that affects a person’s height, muscles, skeleton, genitals, and the facial appearance (1). Anaesthetist James Watts discusses the anaesthetic implications of the syndrome.

AAS was first described in 1970 by Dagfinn Aarskog, a Norwegian paediatrician and geneticist, in relation to characteristic abnormalities associated with short stature; and independently in 1971 by Charles Scott, an American geneticist, who described associated ligamentous laxity, joint hyper-elasticity and flat feet. The syndrome is also associated with learning disability, seizures, and corneal abnormalities (2,3)

The syndrome can include the following:

• Umbilical and inguinal hernia
• Delayed sexual maturity
• Delayed dental development
• Downward palpebral slant, ptosis, hypertelorism; rounded face; abnormalities of middle face development and architecture; small nose with nostrils tipped forward; long philtrum; crease below the lower lip; folded ears
• Hairline with a “widow’s peak”
• pectus excavatum
• Mild to moderate cognitive problems, although the patients usually retain good social skills
• Mild to moderate short height, which may not be apparent until age 3
• ‘shawl’ scrotum; undescended testes
• Short fingers and toes with mild webbing; single crease in the palm of the hand; small, broad hands and feet with short fingers and curved-in fifth finger (4)

In 20% of cases, the syndrome has X -linked recessive inheritance and can affect males and, more rarely, females; it is then usually caused by a variation of the FDG1 gene which regulates cell growth and apoptosis during embryonic development. In other cases, the cause will remain obscure, and inheritance may be autosomal. (5)

AAS may also be associated with other developmental abnormalities including congenital heart disease, scoliosis and malrotations. Therefore, despite its rarity, patients with the condition often present for a variety of monitoring or therapeutic conditions under anaesthesia.

Possible challenges for the anaesthetist (6-11)

• Learning difficulties may require modification of the approach to the patient, especially with relation to consent, capacity and potential Deprivation Of Liberty issues (DOLS). Patient cooperation cannot be assumed, and it may be necessary to administer a sedative premedication to facilitate anaesthetic treatment.
• When positioning the patient, excessive neck extension should be avoided due to possible vertebral development issues and ligament laxity. It has been suggested that imaging of the neck before anaesthesia may be necessary.
• Facial abnormalities such as high arched palate, short neck, and receding jaw etc may be associated with difficulties in airway management and intubation. In particular, a small mouth and an anterior larynx should be anticipated. As a result, video laryngoscopy may be the intubating method of first choice.
• Co-existing kyphoscoiliosis and pectus excavatum may affect respiratory and cardiovascular dynamics.
• Even if asymptomatic, it is worthwhile obtaining an echocardiogram to exclude any incipient or unrecognised cardiac abnormality, including abnormalities of vasculatur anatomy.
• Patients may have corneal enlargement and so meticulous eye care is needed, particularly if the patient is to be placed prone.
• Patients may have a history of seizures, which can complicate post operative care. As a result, a careful neurological history is required. This should include a history of seizure type, frequency and treatment; as well a s a description of any preceding aura which may signal epileptic activity to allow early warning and correct treatment.

Conclusion

The rarity of a syndrome does not necessarily mean that a practising anaesthetist will not come across such a patient, as they may present to hospital for a number of reasons that require anaesthetic intervention. Careful evaluation of the patient, their anatomical characteristics and knowledge of the possibility of other related issues (eg congenital heart disease) will enable the anaesthetist to plan safe care.

References

1. Aarskog-Scott syndrome at the Genetic And Rare Diseases Information Centre website Aarskog-Scott syndrome | About the Disease | GARD (nih.gov) retrieved 26 August 2024
2. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970:856–61.
3. Scott CI. Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome. Birth Defects Orig Artic Ser. 1971;7:240–6.
4. Aaskog syndrome in Aarskog syndrome: MedlinePlus Medical Encyclopedia retrieved 26 August 2024
5. Zhu Y, Chen Q, Lin H, et al FGD1Variant Associated With Aarskog-Scott Syndrome. Front Pediatr. 2022 Jul 14;10:888-923.
6. Sariyilmaz K, Ozkunt O, Korkmaz M, et al Aarskog-Scott syndrome: An unusual cause of scoliosis. J Craniovertebr Junction Spine. 2017;8(Suppl 3):283–4.
7. Gahlot D, Aggarwal M. Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding. Saudi J Anaesth. 2021 Apr-Jun;15(2):216-218.
8. Aarskog syndrome in Access Anaesthesiology Aarskog Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw Hill Medical (mhmedical.com) retrieved 26 august 2024
9. Butler MG, Hayes BG, Hathaway MM, Begleiter ML. Specific genetic diseases at risk for sedation/anesthesia complications. Anesth Analg. 2000 Oct;91(4):837-55..
10. Fernandez I, Tsukahara M, Mito H et al. Congenital heart defects in Aarskog syndrome. Am J Med Genet. 1994 May 1;50(4):318-22.
11. Watts J Brierley A Midazolam for treatment of postoperative nausea? Anaesthesia Volume 56, Issue 11 November 2001 Pages 1116-1130

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Staff Writer