Hartsfield syndrome

[MIM 615 465]

(Hartsfield-Bixler-Demyer syndrome)

Very rare.  Autosomal dominant or recessive transmission of a mutation of gene FGFR1 (8p11.23).

Association of

-        holoprosoencephaly (see this term) with facial dysmorphism: hypertelorism, bilateral epicanthus , nasal cleft, retrognathism, single incisor; risk of diabete insipidus, hypothyroidism, hypogonadotrophic hypogonadism .

-        ectrodactyly (hands and feet)

-        and bilateral labiopalatine cleft

and often anomalies of the ears: cup-shaped low-set ears, preauricular appendices.



Anesthetic implications: 

substitutive opotherapy (thyroid hormones and cortisone); echocardiography; check blood electrolytes (risk of decompensation of a diabetes insipidus); difficult mask ventilation and intubation


References : 


Updated: July 2017