[MIM 212 720]

Very rare. Autosomal recessive transmission (frequent parental consanguinity). Cases due to a mutation of the RAPGAP2 gene (1q41) have been reported. Close to the MICRO syndrome.

Association of:

-        microcephaly and mental retardation (brain abnormalities on MRI)

-        congenital cataract

-        hypogonadotropic hypogonadism

Sometimes:

-        short stature

-        dilated cardiomyopathy with signs of heart failure

-        facial dysmorphism: micrognathia, maxillary hypoplasia, low-set posterior hairline

Anesthetic implications:

preoperative echocardiography. Risk of difficult intubation.

References : 

• Harbord MG, Baraitser M, Wilson J. 
  Microcephaly, mental retardation, cataracts, and hypogonadism in sibs:  Martsolf’s syndrome. 
  J Med Genet 1989; 26 : 397-406.
• Ehara H, Utsunomiya Y, Ieshima A, et al.:  
  Martsolf syndrome in Japanese siblings. 
  Am J Med Genet Part A 143A : 973-8.

Updated: January 2019