[MIM 219 000]

(Cryptophthalmos syndrome)

Very rare: approximately 2/1.106 live births. Polymalformative syndrome with autosomal recessive transmission the 2 key-signs of which are :

       1)   cryptophtalmia

       2)  complete or partial cutaneous syndactyly in the hands and feet.

Mutation of the FRAS1 gene on 4q21 (coding for a protein of the extracellular matrix); but the FREM2 (13q13) (Fraser type 2)  and GRIP 1 (12q14) (Fraser type 3)  genes are involved in some cases.

Other abnormalities found are:

-        facial: microphthalmia or anophthalmia, cleft lip and/or palate, microtia or absence of ear, cleft nostrils

-        in the upper airway: choanal atresia, micrognathia, laryngeal stenosis or web, laryngeal atresia, subglottic stenosis (20 % )

-        urogenital: renal agenesis, urethral valves, hypospadias, microbladder, bicornuate uterus, imperforate hymen

-        anorectal (45 %) malformation

-        cardiac: ASD, VSD, coarctation.

Often lethal in case of laryngeal atresia, bilateral renal dysplasia or congenital diaphragmatic hernia.

To confirm a morphological diagnosis of Fraser syndrome, 3 major or 2 major and 2 minor criteria or 1 major and 3 minor criteria are necessary (table).

Anesthetic implications: 

intubation can be difficult (small mouth opening, laryngeal or subglottic stenosis) or impossible (laryngeal atresia): echocardiography; check renal function.

References : 

-         Rose JB, Kettrick RG. 
Subglottic stenosis complicating the anaesthetic management of a newborn with Fraser syndrome.Paediatr Anaesth 1993; 3: 383-5

-         Jagtap SR, Malde AD, Pantvaidja SH. 
Anaesthetic considerations in a patient with Fraser syndrome. 
Anaesthesia 1995; 50: 39-41

-          Dakins DM, Bingham RM. 
Anaesthetic considerations in patients with Fraser syndrome. 
Anaesthesia 1995; 50: 746

-         Crowe S, Westbrook A, Bourke M, Lyons B, Russel J. 
Impossible laryngeal intubation in an infant with fraser syndrome. 
Pediatr Anesth 2004; 14: 276-8.

-        Okumus N, Onal EE, Turkyilmaz C, Biri A, Gonul II, Unal S, Poyraz A, Atalay Y.
Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period.  
Resuscitation 2005; 65:221-3. 

-          Mathers JD, Breen TM, Smith JH. 
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics. 
Pediatr Anesth 2014; 24:1288-94

-         Izadi F, Ahmadi A, Zobairy H et al. 
Fraser syndrome with laryngeal web: report of two cases and a review of the literature. 
Int J Pediatr Otorhinolaryng 2015; 79: 1959-62. 

-        Tham KM, Liew CWT, Khoo CEH , Wang H, Dela Cruz J, Lie MYK, Hee H.
Successful laryngoscope view using oversized C-MacVR D-blade in children presenting with difficult airway.
Anaesthesia and Intensive Care 2022 ; 50 : 396–9

Updated: October 2022