[MIM 244 460, 127 000]

(Kenny-Caffey-Linarelli syndrome, KCS1, KCS2)

Very rare. Autosomal dominant (type 2) or recessive (type 1) transmission of mutations of the TBCE gene (tubulin-specific chaperone E) in 1q42-q43.

Harmonious dwarfism (size < P2 for age) with normal intelligence with:

-        hypoparathyroidism with hypocalcemia and sometimes tetany, or neonatal seizures

-        macrocephaly with delayed closure of the anterior fontanelle

-        dysmorphic face, sometimes micrognathia

-        anemia

-        bone anomalies: cortical thickening and medullary stenosis of the long bones, absent diploic space  at the level of the skull bones

-        ocular: myopia, microphthalmia, papillary pseudoedema

-        dental anomalies: small teeth, caries

-        partial deafness

-        a case of associated Mounier-Kuhn syndrome (= tracheobronchomegaly with communicating paratracheal cysts) (see this term)

Anesthetic implications:

risk of difficult intubation, avoid hyperventilation (tetany)

References : 

• Janke EL, Fletcher JE, Lewis IH. 
  Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. 
  Paediatr Anaesth 1996; 6: 235-8.

Updated: February 2019