Meier-Gorlin syndrome

(microtia syndrome-skeletal abnormalities-short stature)

Estimated prevalence of < 1.106. Autosomal recessive  transmission except for type 6 where it is dominant. It belongs to the group of primordial dwarfisms because growth delay starts in utero.


Depending on the gene involved, 8 types are distinguished:


-         type 1: mutation of the ORC1 gene (1p32.3) [MIM 224 690]

-        type 2: mutation of the ORC4 gene (2q23.1) [MIM 613 800]

-        type 3: mutation of the ORC6 gene (16q11) [MIM 613 803]

-        type 4: mutation of the CDT1 gene (16q24) [MIM 613 804]

-        type 5: mutation of the CDC6 gene (17q21) [MIM 613 805]

-        type 6: mutation of the GMNN gene (6p22) [MIM 616 835]

-        type 7: mutation of the CDC45L gene (22q11) [MIM 617 063]

-        type 8: mutation of the MCM5 gene (22q12) [MIM 617 564]


The mutations of the ORC1 and ORC4 genes produce the most severe clinical presentations.


Clinical presentation:


The classic triad is:


-        harmonious dwarfism due to prenatal growth retardation (average population weight - 3.8 SD), but growth resumes with normal velocity after 1 year of age (without catch up),

-        microtia, more or less severe hypoplasia of the ear pavilions

-        absence of patellae (early gonarthrosis)


In addition


-        facial dysmorphism: high forehead, microretrognathia, small mouth with full lips, accentuated nasolabial folds

-        microcephaly (43 %)

-        laryngotracheomalacia (42 %)

-        congenital pulmonary emphysema (43 %)

-        hypogenitalism: small testicles or cryptorchidism. In women: hypoplasia of the labia majora and small breasts; sparse hair, no axillary hair

-        sometimes: dislocation of the elbow, hooked clavicles, clinodactyly, flattened long bones epiphyses, genu recurvatum

-        delayed bone age


Anesthetic implications:

short stature. Risk of difficult intubation; check the chest XRays (emphysema ?)


References:

-        de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NVAM et al.
Meier-Gorlin syndrome.
Orphanet J Rare Diseases 2015 ; 10 :114


Updated: July 2020