[MIM 265 000] 

(Escobar syndrome, universal pterygium, non-lethal form of multiple pterygium syndrome)

Very rare. Prevalence: 1/300,000.

Autosomal recessive transmission or dominant transmission [MIM 178 110, also known as distal arthrogryposis type 8] or X-linked [MIM 312 150], depending on the subtype.

*         a lethal form [MIM 253 290] which is part of the akinesia or fetal hypokinesia syndromes and is often associated with an abnormality of the neuromuscular junction of the congenital myasthenia type. Intrauterine growth retardation, skin webs at the level of many joints, polyhydramnios, hydrops, pulmonary hypoplasia. Hypertelorism, cleft palate, micrognathia-microstomia. Sometimes: diaphragmatic hernia, omphalocele, microcephaly.

*        non-lethal forms: presence of skin webs at the level of the flexion creases restricting mobility of the neck and face, limbs and external genitalia. A webbed neck  limiting the extension of the cervical spine is common. Palpebral ptosis, hypertelorism, micrognathia with small mouth opening, cleft palate, sometimes ankyloglossia. Campto- or syndactyly. Short stature with normal psychomotor development. Hypertelorism, and ptosis are frequent.Transmission deafness  is possible (abnormality of the ossicles). Syngnathia (more or less significant synechiae between the gums)  is observed in 40% of cases. Early kyphoscoliosis (before the age of 5 years)following the fusion of vertebrae or spinal blades. Cryptorchidism, absence of the labia majora.

In one case, postoperative hyperthermia ( malignant ?) has been described but there is no risk of malignant hyperthermia. However two cases of association with multicore myopathy and a rod-myopathy have been described.

Anesthetic implications:

difficult intubation ; the difficulty to intubate seems to get worse with age: keep ready to perform fiberoptic intubation. Neuraxial blocks have been carried out successfully despite the kyphoscoliosis. Hearing-impaired child .

References : 

-         Robinson LK, O’Brien NC, Puckett MC, Cox MA. 
Multiple pterygion syndrome : a case complicated by malignant hyperthermia. 
Clin Genet 1987; 32: 5-9.

-         Kuzma PJ, Calkins MD, Kline MD, Karan SM, Matson MD. 
The anesthetic management of patients with multiple pterygium syndrome. 
Anesth Analg 1996; 83:430-2.

-         Kachko L, Platis CM, Konen O, On EB, Tarabikin A, Katz J. 
Lumbar epidural anesthesia for the child with Escobar syndrome. 
Pediatr Anesth 2006; 16: 700-2.

-         Mayhew JF, Mychaskiw G.  
Escobar syndrome: is this child prone to malignant hyperthermia? 
Pediatr Anesth 2009; 19: 69-70.

-         Sertoz N, Guanay H, Karaman S. 
Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. 
Pediatr Anesth 2012; 22: 490-2.

-         Stoll WD, Hebbar L, Marica LS. 
Anesthetic management of a pregnant patient with multiple pterygium syndrome (Escobar type). 
Int J Obstetr Anesth 2012; 21: 197-9.

-         Ohkubo M, Ino T, Shimazaki S, Yabuta K, Okada R, Sato T. 
Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. 
Pediatr Cardiol 1996; 17: 53-6.

-         Mathew S, Chaudhuri S, arun Kumar HD, Joseph TT. 
Airway management in Escobar syndrome: a formidable challenge. 
Indian J Anaesth 2013; 57: 603-5.

Updated: December 2018