IllnessSpondyloepimetaphyseal dysplasia, differential diagnosis

NGS +

Skeletal dysplasias are an extremely diverse and complex group of rare diseases that affect skeletal development and homeostasis. Spondyloepimetaphyseal dysplasia is accompanied by extreme short stature (66-71 cm) with short neck and barrel-shaped chest, brachydactyly, macrocephaly and severe midface hypoplasia. Among the peculiarities of the spine were platyspondylia with multiple cervical spine clefts. Heterozygous carriers grow to a final height of only about 150 cm, corresponding to a mild, proportionate dwarfism phenotype. Spondyloepimetaphyseal dysplasia in the narrower sense is inherited autosomal recessively, although other mutations in the same gene have dominant effects in allelic disorders - as do mutations in other genes, which are sometimes difficult to separate by differential diagnosis. The DNA diagnostic yield is not known in detail. Therefore, an inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded, especially since differential diagnosis with (clinically closely) related skeletal dysplasias can be very difficult.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK555103/

• Allelic: Al-Gazali syndrome (B3GALT6)
• Allelic: Cartilage-hair hypoplasia (RMRP)
• Allelic: Ehlers-Danlos syndrome, spondylodysplastic type, 2 (B3GALT6)
• Allelic: Epiphyseal dysplasia, multiple, 5 (MATN3)
• Allelic: Hip dysplasia, Beukes type (UFSP2)
• Allelic: Osteoarthritis susceptibility 2 (MATN3)
• Allelic: Short stature, adv. bone age, with/-out early osteoarthritis +/- osteochondr. diss. (ACAN)
• Allelic: Warburg-Cinotti syndrome (DDR2)
• Anauxetic dysplasia 1 (RMRP)
• Anauxetic dysplasia 2 (POP1)
• Brachyolmia 4 with mild epiphyseal + metaphyseal changes (PAPSS2)
• Cataracts, growth hormone def., sensory neurop., sensorineural hearing loss, skeletal dyspl. (IARS2)
• Dyggve-Melchior-Clausen disease (DYM)
• Epiphyseal dysplasia, multiple, 5 (MATN3)
• Liberfarb syndrome (PISD)
• Metaphyseal anadysplasia 1 (MMP13)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Metaphyseal dysplasia, Spahr type (MMP13)
• Osteoglophonic dysplasia (FGFR1)
• Smith-McCort dysplasia (DYM)
• Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with/-out fractures (B3GALT6)
• Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (KIF22))
• Spondyloepimetaphyseal dysplasia with joint laxity, type 3 (EXOC6B)
• Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN3)
• Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (NANS)
• Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
• Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (RSPRY1)
• Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (RPL13)
• Spondyloepimetaphyseal dysplasia, Krakow type (SIK3)
• Spondyloepimetaphyseal dysplasia, Missouri type (MMP13)
• Spondyloepimetaphyseal dysplasia, Shohat type (DDRGK1)
• Spondyloepimetaphyseal dysplasia, Strudwick type (COL2A1)
• Spondyloepimetaphyseal dysplasia, XL (BGN)
• Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
• Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
• Spondyloepimetaphyseal dysplasia, sponastrime type (TONSL)
• Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
• Spondyloepiphyseal dysplasia, Maroteaux type (TRPV4)
• Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
• Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)