[MIM 235 730]

Prevalence: 1/50,000 to 1/100,000, probably underdiagnosed. Usually sporadic mutation (84 %) or deletion (15 %) of the ZEB2 gene (2q22-23).

Clinical presentation:

• postnatal microcephaly, significant developmental delay with hypotonia
• brain malformations (50 %): agenesis of the corpus callosum.
• characteristic face: broad forehead with frontal bumps, the eyebrows are thick on the sides but thin in the middle, hypertelorism with enophtalmos; G-shaped ears with broad, anteverted lobes with a central depression; saddle nose with a round, prominent tip, prominent columella, M-shaped upper lip, pointed and narrow chin.
• speech is absent or limited to a few words, and appears around 4 years of age.
• jovial behavior and sociable personality
• frequent epilepsy: all types of seizures have been reported
• genitourinary abnormalities: hypospadias (60 %), cryptorchidism, vesicoureteral reflux, hydronephrosis
• ophthalmological abnormalities: strabismus, astigmatism, myopia
• flat foot, calcaneo-valgus club foot
• pectus excavatum or carinatum, scoliosis
• some cases of tracheal stenosis
• some cases of asplenia with immunodeficiency

Associated with Hirchsprung's disease in 50 % of published cases, but chronic constipation is often present.

Heart defects: CIA, ductus arteriosus, tetralogy of Fallot, abnormalities of the pulmonary arteries (atresia).

Anesthetic implications:

echocardiography and management of congenital heart disease; risk of difficult intubation if micrognathia. The pain threshold seems to be higher than usual. Antibioprophylaxis in case of asplenia.

References : 

-        Kiernan F, Crowe S. 
Safe use of the classic laryngeal mask airway and endotracheal intubation in general anaesthesia for a patient with Mowat-Wilson syndrome. 
Pediatr Anesth 2009 ; 19 : 174-5. 

-        Deshmukh AS, Kelkar KV, Khedkar SM, Gavali Y.
Anaesthetic management of Mowat-Wilson syndrome.
Indian J Anaesth 2016; 60:292-4.

-        Packiasabapathy S, Chandiran R, Batra RK, Agarwala S.
Difficult airway in Mowat-Wilson syndrome.
J Clin Anesth 2016; 34:151-3. 

-        Capri Y.
Protocole National de Diagnostic et de Soins (PNDS) : syndrome de Mowat-Wilson.
Centre de Référence « Anomalies du développement et syndromes malformatifs » d’Ile de France, sept 2021

Updated: March 2023