Table 3. [Genes of Interest in the Differential Diagnosis of Larsen Syndrome]. - GeneReviews®

Gene	Differential Diagnosis Disorder	MOI	Clinical Features
B3GAT3	B3GAT3 deficiency (OMIM 245600)	AR	Joint dislocations	Brachydactyly & cardiac defects (incl bicuspid aortic valve & dilatation of the aorta) in B3GAT3 deficiency
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type 1 (OMIM 130070)	AR	Joint dislocations	Short stature (< -3 SD) in Ehlers-Danlos syndrome, spondylodysplastic type 1
CANT1	Desbuquois dysplasia (OMIM 251450)	AR	Joint dislocations	Short stature (< -3 SD); advanced carpal bone age; & characteristic radiographic manifestations in hips, pelvis, & hands in Desbuquois dysplasia
CHST3	CHST3 skeletal dysplasia ¹	AR	Joint dislocations	Epiphyseal dysplasia; progressive spondylodysplasia in early & mid-childhood; rhizomelic shortening of limbs; & short stature in CHST3 skeletal dysplasia
FLNA	Otopalatodigital syndrome type 1 (OPD1) (See XL Otopalatodigital Spectrum Disorders.)	XL	Spatulate fingers; craniofacial dysmorphism	OPD1 is not assoc w/: dislocation of the large joints (except of the radial heads), cervical spine dysplasia, or radiologically supernumerary ossification centers w/in the carpus &/or tarsus.
GZF1	Joint laxity, short stature, & myopia (JLSM) (OMIM 617662)	AR	Joint dislocations	Myopia, short stature, & excessive joint laxity in GZF1-JLSM (seldom a characteristic of FLNB Larsen syndrome)
BPNT2 (IMPAD1)	Chondrodysplasia w/joint dislocations, GPAPP type (GPAPP deficiency) (OMIM 614078)	AR	Joint dislocations	Pronounced brachydactyly, asymmetry in the hands, & short stature in GPAPP deficiency

Gene

Differential Diagnosis Disorder

MOI

Clinical Features

Overlapping

Differentiating

B3GAT3

B3GAT3 deficiency (OMIM 245600)

Joint dislocations

Brachydactyly & cardiac defects (incl bicuspid aortic valve & dilatation of the aorta) in B3GAT3 deficiency

B4GALT7

Ehlers-Danlos syndrome, spondylodysplastic type 1 (OMIM 130070)

Joint dislocations

Short stature (< -3 SD) in Ehlers-Danlos syndrome, spondylodysplastic type 1

CANT1

Desbuquois dysplasia (OMIM 251450)

Joint dislocations

Short stature (< -3 SD); advanced carpal bone age; & characteristic radiographic manifestations in hips, pelvis, & hands in Desbuquois dysplasia

CHST3

CHST3 skeletal dysplasia ¹

Joint dislocations

Epiphyseal dysplasia; progressive spondylodysplasia in early & mid-childhood; rhizomelic shortening of limbs; & short stature in CHST3 skeletal dysplasia

FLNA

Otopalatodigital syndrome type 1 (OPD1) (See XL Otopalatodigital Spectrum Disorders.)

Spatulate fingers; craniofacial dysmorphism

OPD1 is not assoc w/: dislocation of the large joints (except of the radial heads), cervical spine dysplasia, or radiologically supernumerary ossification centers w/in the carpus &/or tarsus.

GZF1

Joint laxity, short stature, & myopia (JLSM) (OMIM 617662)

Joint dislocations

Myopia, short stature, & excessive joint laxity in GZF1-JLSM (seldom a characteristic of FLNB Larsen syndrome)

BPNT2
(IMPAD1)

Chondrodysplasia w/joint dislocations, GPAPP type (GPAPP deficiency) (OMIM 614078)

Joint dislocations

Pronounced brachydactyly, asymmetry in the hands, & short stature in GPAPP deficiency

From: FLNB Disorders

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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