[MIM 211 170]

Extremely rare. Unknown mode of transmission. 

Association of:

-        coarse facies: wide mouth, thick lips with short philtrum, wide lower jaw, broad nose,. 

-        thick skin with acne conglobata (comedones ++) in adolescence

-        gingival hypertrophy with delayed tooth eruption

-        brachydactyly and camptodactyly

-        mitral valve prolapse evolving quickly towards mitral regurgitation 

-        vertebral osteolysis

Anesthetic implications: 

echocardiography, side effects of the treatment of acne (isotretinoin: Roaccutane ®)

References : 

-         van Steensel MAM, Ceulen RPM, Delhaas T, de Die-Smulders C. 
Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome. 
Am J Med Genet Part A 2007; 143A:1223-6.

Updated: August 2019