Klinische FragestellungAtelosteogenesis I-III, Differentialdiagnose

NGS +

Gruppe von Erkrankungen

• Mild to severe symptoms: SCT syndrome + Larsen syndrome > AOI +AOIII + POCD
• Atelosteogenesis types I, AOI (FLNB) + III AOIII (FLNB)
• Larsen syndrome (FLNB)
• Piepkorn osteochondrodysplasia, POCD (FLNB)
• Spondylocarpotarsal synostosis, SCT syndrome (FLNB)
• Alias: Atelosteogenesis II; Achondrogenesis Ib; De la Chapelle dysplasia (SLC26A2)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Klippel-Feil syndrome 1, AD (GFD6)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Terminal osseous dysplasia (FLNA)
• Atelosteogenesis I+III; Boomerang dysplasia; Spondylocarpotarsal synostosis, Larsen syndrome (FLNB)
• Achondrogenesis Ib (SLC26A2)
• CHST3-CDG [disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies]
• Chondrodysplasia with joint dislocations, GPAPP/GRAPP [includes cleft palate] (BPNT2 syn. IMPAD1)
• De la Chapelle dysplasia, includes clefting; McAlister Dysplasia (SLC26A2)
• Desbuquois dysplasia 1 (CANT1)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Diastrophic dysplasia, includes clefting (SLC26A2)
• Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Epiphyseal dysplasia, multiple, 7 (CANT1)
• Giant cell chondrodysplasia (FLNB)
• Joint laxity, short stature + myopia (GZF1)
• Klippel-Feil syndrome 1, AD; Multiple synostoses syndrome type 4 (GDF6)
• Microphthalmia, isol. 4; Microphthalmia, coloboma 6, digenic; Leber cong. amaurosis 17 (GDF6)
• Multiple joint dislocations, short stature, craniofacial dysmorphism, cong. heart defects (B3GAT3)
• Multiple synostoses syndrome 4 (GDF6)
• Otopalatodigital syndrome, type I (FLNA)
• Skeletal dysplasia with midline cleft palate; Orofacial clefting with skeletal features (FLNB)
• Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)