(MIM 154 780)

Rare. Autosomal dominant transmission of a mutation of the alpha-1-polypeptide gene of collagen XI (COL11A1) on 1p21. This syndrome is close to Stickler syndrome which is caused by mutations of the COL2A1 and COL11A1 genes.

Association of:

-         ocular anomalies: the eyeballs appear large (shallow orbits); myopia, cataract, sometimes vitreous degeneration  with risk of retinal detachment; sometimes glaucoma or dislocation of the lens

-         sensorineural hearing loss

-         craniofacial anomalies: brachycephaly with hypertelorism, epicanthus, midface  hypoplasia, micrognathia, thick lips with long philtrum. sometimes cleft palate with or without Pierre Robin sequence; X-rays: thickening of the bones of the skull and intracranial calcifications

-         ectodermal anhydrotic dysplasia: hypohydrosis and moderate hypotrichosis

-         short stature

A debilitating osteoarthritis (knees, vertebrae) appears around the age of 30-40 years.

Anesthetic implications: 

risk of difficult intubation ; eye protection; risk of hyperthermia.

References : 

Updated: January 2019