Table 2.

Disorders to Consider in the Differential Diagnosis of CHST3-Related Skeletal Dysplasia

DisorderGene(s)MOIClinical Features of This Disorder
Overlapping w/CHST3 Skeletal DysplasiaDistinguishing from CHST3 Skeletal Dysplasia
Larsen syndrome (See FLNB-Related Disorders.) FLNB ADMultiple dislocations
  • Normal birth length in Larsen syndrome; ↓ in CHST3 skeletal dysplasia
  • Distinctive facial features in Larsen syndrome, w/↑ incidence of cleft palate; normal facies in CHST3 skeletal dysplasia
  • Advanced bone age in Larsen syndrome; normal or delayed bone age in CHST3 skeletal dysplasia
Diastrophic dysplasia SLC26A2 AR
  • Short limbs
  • Clubfeet
  • Joint stiffness / limited mobility
  • Hitchhiker thumb
  • Lacks characteristic CHST3 skeletal dysplasia spine findings
Desbuquois dysplasia
(OMIM 251450, 615777)		 CANT1
XYLT1 		AR
  • Prenatal-onset short stature
  • Joint dislocations
  • Multiple coronal clefts on lateral spine x-ray
  • Distinctive facial features in Desbuquois dysplasia (marked midface hypoplasia, prominent eyes)
  • Advanced bone age
B4GALT7 deficiency 1
(OMIM 604327)		 B4GALT7 AR
  • Prenatal-onset short stature
  • Joint dislocations
  • Advanced bone age
  • Lacks characteristic CHST3 skeletal dysplasia spine findings
B3GALT6 linkeropathy
(OMIM 61521)		 B3GALT6 AR
  • Prenatal-onset short stature
  • Joint dislocations
  • Advanced bone age
  • Lacks characteristic CHST3 skeletal dysplasia spine findings
1.

The La Reunion variant of recessive Larsen syndrome is caused by a specific B4GALT7 pathogenic variant [Cartault et al 2015].

From: CHST3-Related Skeletal Dysplasia

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