(Also Fatty Acid Oxidation Disorders) Mitochondrial enzyme defects affecting fatty acid metabolism with a buildup of toxic substances and over-utilization of peripheral glucose. Medium chain acyl-CoA dehydrogenase deficiency (MCADD), VLCADD and LCHCADD are the most problematic for anesthesia. Risk of hypoglycemia and metabolic crisis with high fat diet or poor oral intake. Avoid prolonged fasting, suxamethonium and propofol infusion. Consider 10% dextrose.

Acute disseminated encephalomyelitis. Frequently has a history of preceding infection or vaccination. Affects myelin and white matter leading to visual loss, weakness, loss of coordination and altered consciousness associated with rapid onset fever. Single episode in contrast to MS, which is recurring.

Inherited autosomal recessive disorder affecting cortisol production by the adrenal glands with a compensatory increase in pituitary secretion of adrenocorticotropin. The results are abnormal cortisol or aldosterone synthesis and an increase in androgen production causing ambiguous genitalia in female infants, precocious sexual development in males, premature closure of growth plates, glucose and electrolyte disorders and blood pressure changes.

Autosomal dominant abnormality of first branchial arch causing premature closure of cranial sutures, midface hypoplasia, choanal atresia, cleft palate, fusion of cervical spine (mainly C5-C6) and syndactyly. May have associated cardiac and renal abnormalities as well as intellectual impairment due to megalocephaly, hypoplasia of white matter and agenesis of the corpus callosum. Obstructive sleep apnea is present in 50% and there may be an increased incidence of upper airway obstruction at induction, which is mostly overcome by routine maneuvers.

AMC is a physical diagnosis involving multiple joint contractures, possibly due to congenital myopathy before birth. Contractures may affect neck and mouth, and may affect respiratory function directly or by causing scoliosis.

Autosomal recessive disorder with progressive neurological impairment and early onset of cerebellar ataxia, telangiectasia and variable immune deficiency and predisposition to malignancy. Hypersensitive to medical radiation.

Macroglossia, visceromegaly and hypoglycemia from insulin-like growth factor. Associated with omphalocele and diaphragmatic eventration in neonates. Increased risk of Wilms tumor and hepatoblastoma. Must receive glucose while fasting.

Syndrome consisting of coloboma of the eyes, heart defects, choanal atresia, developmental delay, intellectual impairment, genitourinary anomalies and ear anomalies. These children are frail with multiple abnormalities. Cardiac defects and poor respiratory reserve most problematic for anesthesia.

Varicella zoster virus is highly contagious and will spread via respiratory droplets or direct contact. Patients are infectious from 2 days before the rash appears until all blisters have crusted. Exposed patients should be isolated from 8 to 21 days after the exposure.

The most common microdeletion (approximately 1:4000) causing phenotypically similar disorders including DiGeorge and Velocardiofacial syndromes with cardiac disease, hypoparathyroidism, immunodeficiency mainly related to T cell changes, autoimmune disease, intellectual impairment and psychiatric disorders including ADHD, anxiety and psychosis in adults. Facial abnormalities such as micrognathia and cleft palate may cause airway difficulties.

Rare genetic disorder with IUGR, short stature, moderate to severe intellectual disability, gastro-intestinal problems and malformations mainly affecting the upper limbs. Distinctive facial features include arched eyebrows which meet in the middle, low set ears and widely spaced teeth. May be associated with microcephaly, micrognathia, cleft palate, diaphragmatic hernia and cardiac abnormalities.

Characterized by a high-pitched, cat-like cry. Micrognathia and abnormal larynx. Hypotonia, severe intellectual disability. Cardiac defects common.

Inherited in an autosomal dominant pattern, although over half are new mutations. Abnormality of first branchial arch causing underdevelopment of the midface with craniosynostosis, exophthalmos, hypertelorism, hydrocephalus, Chiari type I malformation and hind-brain herniation. The upper cervical vertebrae may be fused occasionally. When the mandible size is normal and there are no neck issues, mask fit may be awkward but intubation is usually straightforward.

Congenital benign multiloculated lesion of lymphatics which can occur anywhere in the body, but typically occurs in the neck, where it may cause significant airway problems.

Hypoplasia of the cerebellar vermis with expansion of the fourth ventricle and hydrocephalus. Causes raised intracranial pressure, intellectual impairment, developmental delay with signs of cerebellar dysfunction, and central respiratory disorders.

See chromosome 22q11.2 deletion syndrome.

A disorder caused by in-utero alcohol exposure. Diagnosis is complex. Features include abnormal facies, microcephaly, poor motor skills, intellectual disability, attention deficit and hyperactivity, regulation of affect, failure to thrive and cardiac defects.

Chromosomal disorder causing progressive intellectual impairment and behavioral problems, with approximately one third having features of Autism Spectrum Disorder. Seizures in 5–15%.

A rare congenital contracture syndrome with myopathy affecting the facial, limb and respiratory muscles. Also called Whistling Face Syndrome. Features include microstomia, micrognathia, microglossia, hypertelorism and joint contractures particularly of the hands and feet. Anesthetic concerns include difficult airway due to small mouth and jaw, and postoperative respiratory complications. Although there have been case reports of MH in some children with Freeman Sheldon, there is no genetic link or association.

Disorder of galactose metabolism. Type 1 most common and most severe. Untreated causes failure to thrive, hypoglycemia, hepatic failure, coagulopathy and seizures. May be associated with sepsis, developmental delay and development of cataracts. Types 2 and 3 are associated with less problems.

Epstein-Barr virus infection common in teenagers. Incubation period is 30–50 days. Associated with fever, sore throat, lethargy, lymphadenopathy and splenomegaly, although 50% do not develop symptoms. May also have a rash, jaundice and abdominal pain from enlarged liver and spleen. May last for weeks to months. Infectious period may last months after the infection and some become carriers. No need to isolate patients. Spread is via saliva and respiratory droplets.

X-linked enzyme deficiency causing hemolysis after certain triggers. Most patients are asymptomatic with normal or near-normal Hb. Some present with neonatal jaundice or hemolytic crisis in response to infection or oxidative agents.

Triggers include fava beans (broad beans), fava bean pollen, sulfonamides, nitrofurans, quinolones, antimalarials, aspirin, methylene blue and other drugs. Propofol, volatile agents and opioids are safe. A rare subgroup of children have chronic hemolysis in the absence of trigger agents, and paracetamol cannot be used in this subgroup.

Disorders of glycogen metabolism and storage. Different types vary in severity and each require unique management.

Fasting causes hypoglycemia, and each patient will know their tolerable fasting time. Older children usually able to fast overnight. These children should be first on list, have blood glucose monitored, and receive 10% dextrose 4–5 mL/kg/h if any doubt about ability to fast.

Type 1. Glucose-6-phosphatase deficiency and unable to convert glycogen to glucose. Glycogen accumulates in liver, kidneys and small intestines. Associated with hypoglycemia, lactic acidosis and hyperuricemia.

Type 2. (Pompe’s disease). Glycogen infiltration causes macroglossia and potential airway difficulty.

Type 3. Glycogen debranching enzyme deficiency. Associated with muscle weakness and cardiomyopathy.

Type 4. Branching enzyme deficiency causing formation of abnormal glycogen leading to cirrhosis of the liver and fibrosis of cardiac and skeletal muscle.

Also known as Facio-Auriculo-Vertebral sequence. A defect of the branchial arches leads to a small, asymmetrical mandibular hypoplasia, small or absent ear, and cervical spine abnormalities. May also have intellectual impairment and cardiac defects. Airway may be difficult due to asymmetrical mandibular hypoplasia and cervical fusion. As the severity of the jaw deformity increases, so does the difficulty in intubation. The difficulty is not affected by which side the deformity is on, and may worsen with age.

Coxsackie virus infection, causing blisters on the hands, feet, in the mouth and nappy area. Generally mild and in children younger than 10 years. Most adults are immune from previous infection. Spread is via direct contact, respiratory droplets and feces. The blisters last 7–10 days are infectious until they all dry out, although the virus may be shed in the feces for a further 2 weeks.

Most common vasculitis in childhood. Unknown etiology but half have a history of recent upper respiratory tract infection. Associated with widespread purpura, arthralgia, abdominal pain and renal involvement.

Disorder of methionine metabolism. Most common type is associated with lens dislocation, thromboembolism events and osteoporosis. May have developmental delay. Risk of hypoglycemia with fasting. Avoid nitrous oxide.

Staphylococcus aureus or pyogenes skin infection mainly of the face, hands and feet. Commonly affects children but can occur at any age. The open sores are highly contagious, spreading via direct contact or touched surfaces such as toys, clothes, towels etc. Typically clears up in 7–10 days with topical antibiotics and personal hygiene.

Second most common vasculitis in childhood. Unknown etiology. May cause cardiac and cerebral ischemia from aneurysm formation, despite early treatment with IV immunoglobulin.

Congenital condition characterized by short neck, low posterior hairline and restricted cervical spine movement secondary to fused vertebrae. May be associated with other anomalies. Airway may be difficult.

Lysosomal storage disease. Includes Tay-Sachs, Leigh Syndrome, Gaucher, Niemann-Pick, Fabry and Krabbe disease. Associated with hepatomegaly and developmental delay. Avoid lactate containing fluids and large doses of propofol.

Viral illness with a red and slightly raised rash associated with mild to severe constitutional symptoms. Complications include pneumonia (20%) and encephalitis. Infectious period is 24 h before rash until 4 days afterwards. Usually lasts 10 days.

One of the organic acidurias. Abnormal methylmalonic acid metabolism causes metabolic acidosis with or without hyperammonemia. Associated with encephalopathy, hypotonia, developmental delay, hepatomegaly, hypoglycemia, recurrent vomiting and dehydration. Avoid nitrous oxide and fasting. Some concerns about large doses of propofol.

Common viral skin infection causing small raised spots with a central dimple. Mainly affects children, as adults have been exposed previously. Most heal within months without treatment. Spread is by direct contact, pool water, bath toys and towels.

Viral illness associated with fever and swollen salivary glands. May cause encephalitis and myocarditis. Spread is by respiratory droplets and infectious period is 7 days before onset of symptoms until 8 days afterwards. However, one in three are asymptomatic but still infectious.

Short stature, flattened midface, webbed neck and micrognathia, although the airway is usually not difficult. Mild intellectual disability, cardiac defects (particularly pulmonary stenosis) and coagulopathy.

Inherited abnormality in collagen production leading to extremely fragile bones. Multiple genetic causes forming five clinical subtypes. Type I is the mildest and commonest, and is non-deforming with blue sclera. Severe forms are associated with scoliosis, short stature, midface hypoplasia, pointed jaw and abnormally formed teeth. Care is required with intubation, positioning and use of tourniquets. Hyperthermia during anesthesia is common, but not associated with MH. Bisphosphonate therapy is the mainstay of fracture prevention.

Disorder of metabolism of phenylalanine to tyrosine that causes irreversible brain damage unless managed with a diet low in phenylalanine. No specific anesthetic implications if asymptomatic and on correct diet.

Abnormality of chromosome 15 causing hypotonia, hypogonadism, intellectual disability, erratic emotions and outbursts, short stature, hyperphagia and early morbid obesity. Sleep apnea, respiratory and cardiac problems secondary to morbid obesity. See www.​pws.​org.​au.

Severe neurodevelopmental disorder in females only. Onset after age 1 year with regression of language skills, loss of purposeful hand movements, hypotonia, autistic behavior, deceleration of head growth and seizures. May have associated cardio-respiratory abnormalities.

Rare, acute encephalopathy and fatty degeneration of the liver (first described by Reye in Australia in 1963). Cause is unknown, but typically preceded by a viral infection. An association with aspirin when used to treat symptoms of a viral illness lead to avoidance of aspirin in children. Underlying fatty acid oxidation disorder increases the risk.

Very common mild viral illness associated with a fine, raised, red rash and high fever in children usually aged between 6 months and 3 years. Can be confused with measles or rubella. Infectious period is before symptoms start. Main complication is febrile convulsions.

Viral illness associated with a distinctive red rash, lymphadenopathy and coryzal symptoms. Usually mild. Associated with high risk of miscarriage or congenital abnormalities if infected during first trimester of pregnancy. Infectious period is 7 days before rash appears until at least 4 days after rash.

Growth retardation in utero and after birth combined with normal head circumference, triangular face and asymmetry of limbs, body or face. Other features may include micrognathia that may be severe enough to affect intubation, feeding problems, lack of subcutaneous fat, a propensity for hypoglycemia and developmental delay. Rare cases are associated with cardiac defects. See https://​www.​healthline.​com/​health/​russell-silver-syndrome.

Neurocutaneous angiomas (‘portwine stains’), typically in the trigeminal distribution. Leptomeningeal angiomas may cause seizures, focal deficits, developmental delay and learning disorders. Angiomas in pharynx or larynx may cause obstruction and require treatment, or can be traumatized during airway instrumentation. Airway angiomas are more likely if multiple angiomas are present or in the ‘beard area’ of the face.

Involuntary motor and vocal tics, sometimes associated with obsessive-compulsive disorder or ADHD.

Genetic dysmorphogenesis of the first and second branchial arches. Associated with downward slanting eyes, coloboma, micrognathia, cleft palate, macrostomia, hypoplastic zygoma and abnormalities of the ear with conductive hearing loss. May have very difficult airway, and despite the laryngopharynx having an abnormal funnel-shape, the LMA is often effective. The airway becomes more difficult with age.

Chromosomal XO, thus only affecting females. Associated with short stature, hypoplasia of cervical vertebrae, webbed neck, broad chest and gonadal dysgenesis. Cardiac abnormalities occur in a third, mainly bicuspid aortic valve and coarctation of the aorta. May also be associated with renal and endocrine abnormalities, midface hypoplasia, micrognathia and learning disabilities.

Vertebral anomalies, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal and Limb anomalies. Anesthetic considerations mainly relate to the cardiac and tracheal abnormalities. Most commonly encountered in neonates for tracheo-esophageal fistula repair. See www.​vacterl-association.​org.​uk.

See 22q11.2 deletion syndrome.

Highly contagious bacterial respiratory infection caused by bordetella pertussis. In adolescents and adults, it causes coryzal symptoms followed by cough lasting up to 3 months. Can be life threatening in young children, elderly and immunocompromised patients. Complications include pneumonia, seizures and hypoxic cerebral ischemia secondary to coughing fits. Spread is via respiratory droplets. Infectious period is likely the first 3 weeks from symptoms starting.

Spontaneous deletion of 26–28 genes on chromosome 7. Characterized by developmental delay with well-developed verbal skills, highly sociable personality, hypercalcemia and elfin-like facies with wide mouth, full lips and small chin. Cardiac abnormalities are the major problem and include supravalvular aortic stenosis, pulmonary stenosis and coronary artery abnormalities making these children high risk for cardiac arrest during anesthesia, even when completely asymptomatic.

See https://​williams-syndrome.​org/​what-is-williams-syndrome.

Primarily affects males. Immune deficiency, microthrombocytopenia with or without bleeding abnormality, eczema, and increased risk of autoimmune disorders. Overlapping signs and symptoms and same genetic cause as X-linked thrombocytopenia and severe congenital neutropenia. See www.​ghr.​nlm.​nih.​gov/​condition=​wiskottaldrichsy​ndrome.