(Taybi syndrome)

Very rare. X-linked transmission with moderate expression among women carrying the mutation . Mutations of the FLNA gene (Xq28) which codes for filamin A . Other mutations of this gene may lead to chronic intestinal pseudo-obstruction, a form of Ehlers-Danlos syndrome or brain abnormalities.

Association of:

-        skeletal dysplasia: growth delay, curved long bones, hyperostosis of the skull

-        hearing deficit caused by malformation of the ossicular chain

-        cleft palate,

-        abnormalities of the fingers and/or toes: hypoplasia of the distal phalanges, wide and low implanted thumbs,  abnormally spread toes

-        facial dysmorphism: hypertelorism, square chin, large root of the nose, hyperostosis, prominent supra-orbital rim and downslanting palpebral fissures

-        agenesis of some teeth.

Sometimes, abnormalities of fusion of the cervical vertebrae and fusion of the laminae at the cervical level.

There are two clinical forms:

-        type 1 (Taybi syndrome) [MIM 311 300]: mild form, no mental retardation;

-        type 2 [MIM 304 120]: most severe form; hypoplasia of the thorax, curved long bones (sometimes absence of fibula), flexed fingers, polydactyly, obstructive uropathy. Large anterior fontanel, severe scoliosis. Sometimes hydrocephalus (Arnold-Chiari malformation), encephalocele or omphalocele, tracheomalacia. Moderate mental deficit.

Anesthetic implications:

difficult intubation (neck mobility); compression of the brainstem after intubation in a patient with cervical vertebrae malformations. Difficult venous access due to deformities of the limbs. Cleft palate.

References : 

-         Clark JR, Smith LJ, Kendall BE, Tasker RC, Wilkinson KA. 
Unexpected brainstem compression following routine surgery in a child with oto-palato-digital syndrome. 
Anaesthesia 1995; 50: 641-3.

-         Zachariah SK, Rai E,  Ninan S. 
Anesthesia in a child with otopalatodigital syndrome. 
Pediatr Anesth 2010; 20: 367-8.

-         Geneviève D, Captier G, Blanchet C. 
Syndromes avec fentes labiopalatines. 
In Syndromes dysmorphiques  coordonné par Lacombe D et Philip N, Collection Progrès en Pédiatrie,  Doin 2013, p 261-82. 

-        Okuno T, Igarashi A, Sugihara Y, Imoto Y, Ohshima Y.
Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2.
Pediatrics International 2022 ; 64 : e15127

Updated: May 2022