[MIM 236 700]

Autosomal recessive transmission of a mutation of the  BBS6 or MKKS gene on 20p12.

Considered as a variant of Bardet-Biedl syndrome.

Clinical features:

-        polydactyly,

-        urogenital anomalies:  hydrometrocolpos secondary to vaginal atresia or hymeneal imperforation; the boy: glandular hypospadias in boys.

-        heart disease:  atrioventricular canal, ASD, tetralogy of Fallot

-        mental retardation.

Some patients develop obesity and visual disturbances as in Bardet-Biedl syndrome.

Sometimes facial dysmorphism (reported cases of difficult intubation). Occasionally: esophageal atresia, Hirchsprung disease.

Anesthetic implications:

lower abdominal mass that can interfere with ventilation. Cardiac ultrasound. Risk of difficult intubation.

References : 

• Tekin I, Gulay O, Genc A, Tok D. 
  Anaesthetic management in McKusick-Kaufman syndrome. 
  Paediatr Anaesth 2003; 13: 167-70.
• Hammar FE, Dubreuil M, Benoit I, Meimat Y. 
  Intubation difficile chez un nourrisson atteint d'un syndrome de McKusick-Kaufman: échec de la séquence masque laryngé-fibroscope. 
  Ann Fr Anesth Réanim 1998; 17: 240-2.

Updated: January 2019