Myhre syndrome

[MIM 139 210]

Very rare. Autosomal dominant or X-linked transmission of a mutation of the SMAD4 gene which results in a decrease of the genes targeting the TGFß in fibroblasts; this produces an almost reverse phenotype to Marfan syndrome. The LAPS syndrome is a phenotypic variant of the same mutation.

Association of:

-         short stature with marked muscular hypertrophy (stocky appearance)

-         reduction of joint mobility, thick skin

-         facial dysmorphism: short palpebral fissures, thin lips, short philtrum, maxillary hypoplasia and prognathism

-        platyspondyly with gradual appearance of a narrow vertebral canal

-        progressive hearing loss

-        variable intellectual deficit

-        significant risk of laryngotracheal stenosis after intubation

-        sometimes: trails of thick and yellowish skin following the lines of Blashko at the level of the forehead and the posterior part of the neck


Anesthetic implications: 

no case report; short stature, risk of difficult intubation due to maxillary hypoplasia


References : 

-         Burglen L, Héron D, Moerman A, Dieux-Coeslier A et al. 
Myhre syndrome : new reports, review and differential diagnosis. 
J Med Genet 2003; 40: 546-51.

-        McGowan R, Gulati R, McHenery P, Cooke A, Butler S et al.
Clinical features and respiratory complications in Myhre syndrome.
Eur J Med Genet 2011 ; 54 : e 553-9.

-        Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, OBrien EK.
Myhre-LAPs syndrome and intubation related airway stenosis : keys to diagnosis and critical therapeutic interventions.
Am J Otolaryngol Head Neck Medic & Surg 2015 ; 36 : 636-41


Updated: June 2017