[MIM 216 340]

(Cleidocranial dysplasia with micrognathism, absence of thumbs and distal phalanges)

Prevalence < 1/1.106. Recessive autosomal transmission of a mutation of the FIG4 gene (6q21). It is a multisystem pathology involving the bones, the ectodermal tissues and the heart.

Main features:

-          large fontanelle

-         hypoplasia or aplasia of the clavicles (absence of nipples)

-        facial dysmorphism: microcephaly, microretrognathia, exophthalmos, scanty hair, lack of eyebrows, thin retracted lips

-          cerebral malformations: aplasia of corpus callosum, arhinencephaly, ventricular abnormalities,  etc ...

-        hypotonia

-         abnormalities of the fingers and toes: hypoplasia or absence of the thumbs or big toes, absence of the distal phalanges, syndactyly

-        congenital dislocation of the hip, absence of the shoulder blades

-         feeding difficulties

-        cardiac defect: VSD, tetralogy of Fallot, pulmonary hypertension

-          mental and developmental retardation

-        sometimes: abnormal hepatic vessels

At biopsy, there are large cytoplasmic vacuoles in neural, muscular and cartilaginous cells. This syndrome is usually lethal in early childhood.

Anesthetic implications:

difficult intubation, echocardiography, echoguided central venous access.

References : 

-        Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A et al. 
Yunis-Varon syndrome.
Indian J Pediatr 2006; 73: 353-5.

Updated: August 2018