Geleophysic dysplasia

(Spanger's gelophysic dwarfism)

Prevalence: 1.106. Form of dwarfism.

There are three types:

-        type 1 [MIM 231 050]: autosomal recessive transmission of a mutation of the ADAMTSL2 gene (9q34.2) coding  for  the Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2 glycoprotein

-        type 2 [MIM 614 185]: autosomal dominant transmission of a mutation of the FBN1 gene (15q21.1) coding for fibrillin 1; this form is allelic with acromicric dysplasia and the autosomal dominant form of Weill-Marchesani syndrome (see these terms).

-        type 3 [MIM 617 809]: autosomal recessive transmission of a mutation of the LTBP3 gene (11q13).

These mutations would lead to a disorganization of the microfibrillary network and an increase in the signal of the TGF-β .

Clinical features:

-        characteristic facies (happy face): short nose, round cheeks, hypertelorism, long and flat philtrum and thin upper lips.

-        gradual thickening of the cardiac valves (aortic, mitral, pulmonary) often resulting in early death

-        contraction of the gastrocnemius muscle and the Achilles tendon producing tiptoe walking,

-        tracheal stenosis, which can lead to respiratory failure

-        hepatomegaly due to the accumulation of heparan-sulfate

-        at the bone level: bone age delay, conical epiphyses, short tubular bones (especially in the hands and feet) and  ovoid vertebral bodies.


Anesthetic implications:

echocardiography; short stature; endotracheal tube size ? increased risk of tracheal stenosis; difficult peripheral venous access.


References :

-        Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C et al.
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 
J Med Genet 2011; 48: 417-21.


Updated: March 2020