[MIM 250 250]

(McKusick metaphyseal chondrodysplasia, autosomal recessive metaphyseal chondrodysplasia, cartilage-Hair hypoplasia)

Very rare. Mutation of the TMR gene (9p13.3). This mutation can produce a spectrum of anomalies ranging from cartilage-hair dysplasia to anauxetic hypoplasia syndrome (more severe) or metaphyseal dysplasia without hypotrichosis. 

Association of:

-         short stature at birth: short chest and limbs

-         very thin hair

-         short hands, laxity of the joints but with limited extension of the elbows

-         round and bulky epiphyses in infancy

-         kyphoscoliosis

-         severe forms: immune deficiency, hypoplastic anemia in neonatal period, Hirschsprung disease, increased cancer risk

-         severe forms: instability of the C1 - C2 joint, midface hypoplasia and macroglossia, dental anomalies

Anesthetic implications: 

short stature, check the stability of the C1 - C2 joint: difficult intubation ? Short neck: risk of bronchial intubation; careful choice of the endotracheal tube ? Antibiotic prophylaxis. Possibly difficult neuraxial block (narrow spinal canal ?).

References : 

• Thiel CT. 
  Cartilage-Hair Hypoplasia-Anauxetic dysplasia spectrum disorders. 
  In Pagon RA, Adam RP, Bird TD et al, editors: GeneReviews™ (internet) Seattle (WA) March 15, 2012.

Updated: November 2019