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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSpondyloepiphyseal dysplasia, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Spondyloepiphyseal Dysplasia comprising 1 guideline-curated gene and altogether 18 curated genes according to the clinical signs

Number of genes
7 Accredited laboratory test
Examined sequence length
17,7 kb (Core-/Core-canditate-Genes)
20,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

No ORPHA#: large group of diseases


  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
  • ?Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
  • Allelic: Autism, susceptibility to, XL 5 (RPL10)
  • Allelic: Carpal tunnel syndrome (COMP)
  • Allelic: Deafness, AD 13 (COL11A2)
  • Allelic: Deafness, AD 37 (COL11A1)
  • Allelic: Deafness, AR 53 (COL11A2)
  • Allelic: Hereditary motor and sensory neuropathy, type IIc (TRPV4)
  • Allelic: Leber congenital amaurosis 9 (NMNAT1)
  • Allelic: Legg-Calve-Perthes disease (COL2A1)
  • Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Allelic: Parastremmatic dwarfism (TRPV4)
  • Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Allelic: Short stature, adv. bone age, with/-out early osteoarthritis +/- osteochondr. diss. (ACAN)
  • Allelic: Sodium serum level QTL 1 (TRPV4)
  • Allelic: Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Allelic: Stickler syndrome, type I (COL2A1)
  • Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Arthropathy, progressive pseudorheumatoid, of childhood (CCN6)
  • Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Brachyolmia type 3 (TRPV4)
  • Czech dysplasia (COL2A1)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Epiphyseal dysplasia, multiple, 1 (COMP)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • GM1-gangliosidosis, types I, II, III (GLB1)
  • Hip dysplasia, Beukes type (UFSP2)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Kniest dysplasia (COL2A1)
  • Lowry-Wood syndrome (RNA4ATAC)
  • Marshall syndrome (COL11A1)
  • Metatropic dysplasia (TRPV4)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNA4ATAC)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
  • Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Pseudoachondroplasia (COMP)
  • Roifman syndrome (RNA4ATAC)
  • Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Spondyloepimetaphyseal dysplasia Strudwick type (COL2A1)
  • Spondyloepiphyseal dysplasia congenita (COL2A1)
  • Spondyloepiphyseal dysplasia tarda (TRAPPC2)
  • Spondyloepiphyseal dysplasia tarda with progressive arthropathy (CCN6)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
  • Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
  • Spondyloepiphyseal dysplasia, Kondo-Fu type (MBTPS1)
  • Spondyloepiphyseal dysplasia, Maroteaux (TRPV4)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, ID + Leber congenital amaurosis (NMNAT1)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type II (COL11A1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined