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GENATLAS PHENOTYPE
last update : 05-12-2009
Symbol CLSP
Location 1p32-p31
Name chondrodysplasia lethal neonatal, with snail-like pelvis
Other name(s) Schneckenbecken dysplasia
Corresponding gene SLC35D1
Main clinical features
  • short-limbed dwarfism, lethal, with vertebral anomalies (bodies hypoplastic with relatively well-preserved posterior arches), superiorly oriented orbits with Mephistophilian appearance
  • radiographic features were short, broad long-bones with dumbbell-like appearance, flat and hypoplastic vertebral bodies, short and wide fibula, and precocious ossification of the tarsus, snail-like pelvis
  • chondroosseous histology characterized by hypervascularity, increased cellular density, and normal-sized chondrocytes with a centrally located round nucleus and absence of lacunar space
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s) deficiency causes the shortening of chondroitin sulfate chains, leading to the disorganization of a functional ECM in epiphyseal cartilage and to skeletal dysplasias