The prevalence is estimated at 1/100,000. Heterogeneous group of bone disorders characterized by growth disorders (short chest and  limbs) and walking difficulties  since early childhood . A common characteristic is the platyspondyly (flattened vertebrae).

Various types:

*         Spondylometaphyseal dysplasia Kozlowski type [MIM 184 252]
Autosomal dominant transmission of a mutation in the TRVP4 gene on 12q24.1.
Onset after the 2nd year of life: dwarfism with short trunk. Scoliosis, kyphosis, and abnormalities of the femur causing a coxa vara. Atlo-axial instability. Sometimes cleft palate. Adult size: 130 to 150 cm.

*         Spondylometaphyseal dysplasia Schmidt type [MIM 184 253]
Very rare. Probably autosomal dominant transmission of a mutation of the COL10A1 gene on 6q22.3. Progressive kyphoscoliosis, wrists deformation, genu valgum, myopia, narrow pelvis. Adult size: 140-150 cm.

*         Spondylometaphyseal dysplasia Sutcliffe or Corner-fracture type [MIM 184 255 ] :
autosomal dominant transmission, onset after the 2nd year of life: short stature, no platyspondyly, waddling walking

*         Spondylometaphyseal dysplasia combined with immune deficiency [MIM 607 944]
Very rare. Bone abnormalities are associated with autoimmune manifestations such as vitiligo, arthritis, Crohn's disease, thyroiditis or a low platelets count.

*         Spondylometaphyseal dysplasia type A4

*         Spondylometaphyseal Dysplasia, X-linked

*  Spondylo-metaphysea dysplasia with cone-rod dystrophy [MIM 608 940]. Autosomal recessive transmission of a  mutation of the PCYT1A gene (3q29) coding for the CTP-phosphocholine cytidylyltransferase, one of the genes involved in the synthesis of phospholipids and expressed in mitochondria. Post-natal growth delay with very small stature, rhizomelia with bowed lower limbs, platyspondylia with anterior protrusion of the vertebrae, progressive irregularity of metaphyses with short tubular bones; early and progressive visual disorders with pigmentary maculopathy and signs of cone-rod dysfunction at ERG.

*         Spondylometaphyseal dysplasia Sedaghatian type [MIM 250 220]
Very rare: a dozen of cases reported. Unknown etiology. Association of severe metaphyseal chondrodysplasia, shortening of the root of the limbs, platyspondyly and thoracic hypoplasia. And also: facial dysmorphism, cardiac arrhythmias, anomalies of the tarsal bones, long fibulae, intracranial anomalies (absence of corpus callosum) and a serrated  aspect of the iliac crests. Generally lethal in the neonatal period due to cardio-respiratory failure.

Anesthetic implications: 

check the stability of the C1 - C2 joint because there is a risk of spinal cord compression. Restrictive lung disease, obstructive apnea, frequent respiratory infections, dyspnea (hypoplastic thorax); short stature; difficult intubation? Short neck: risk of bronchial intubation; careful selection of the size of the endotracheal tube ?

References : 

-         Witters I, Moerman P, De Catte L, Fryns J-P. 
Sedaghatian type of spondylometaepiphyseal dysplasia and concurrent anomalies. 
Ultrasound 2009; 17: 96-8.

Updated: February 2020