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

IllnessSkeletal dysplasia, differential diagnosis


Short information

Comprehensive differential diagnostic panel für Skeletal dysplasia containing guideline-curated and altogether several hundred genes according to the HPO terms supplied.

Number of genes
1 Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
  • No OMIM-Gs linked

Informations about the disease

Clinical Comment

Skeletal dysplasias are a diverse group of genetic diseases of the skeleton that usually manifest during pre- and postnatal growth. There are over 450 different recognized dysplasias. They lead to a variety of phenotypes with e.g. dwarfism, skeletal deformities and increased bone fragility. Each individual type of skeletal dysplasia is rare, but the overall incidence worldwide is about 1/5000-1/3000 births. Skeletal dysplasias are genetically heterogeneous and can be inherited as autosomal dominant, autosomal recessive, X-linked recessive and X-linked dominant disorders. Rarer genetic disease mechanisms such as chromosomal deletions/duplications, germline mosaics and uniparental disomy have also been observed. The DNA diagnostic yield is not known exactly. Therefore, an inconspicuous genetic finding does not exclude a suspected clinical diagnosis, especially since differential diagnosis with (clinically closely) related skeletal dysplasias can be very difficult.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507692/



  • Alias: Skeletal dysplasia
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Avascular necrosis of the femoral head (COL2A1)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Deafness, AD 13 (COL11A2)
  • Allelic: Deafness, AD 37 (COL11A1)
  • Allelic: Deafness, AR 53 (COL11A2)
  • Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
  • Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Pelger-Huet anomaly (LBR)
  • Allelic: Preterm premature rupture of the membranes, susceptibility to (SERPINH1)
  • Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
  • Allelic: Reynolds syndrome (LBR)
  • Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Allelic: Short stature, idiopathic familial (SHOX)
  • Allelic: Sodium serum level QTL 1 (TRPV4)
  • Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1
  • Acampomelic campomelic dysplasia (SOX9)
  • Achondrogenesis Ib (SLC26A2)
  • Achondrogenesis, type IA (TRIP11)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Achondroplasia (FGFR3)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Anauxetic dysplasia 1 (RMRP)
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR)
  • Atelosteogenesis, type II (SLC26A2)
  • Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Brachyolmia type 3 (TRPV4)
  • Bruck syndrome 1 (FKBP10)
  • Bruck syndrome 2 (PLOD2)
  • CATSHL syndrome (FGFR3)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cartilage-hair hypoplasia (RMRP)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, XLR (ARSE)
  • Chondrodysplasia punctata, XLR (ARSL)
  • Cleidocranial dysplasia (RUNX2)
  • Cleidocranial dysplasia, forme fruste, dental anomalies only (RUNX2)
  • Cleidocranial dysplasia, forme fruste, with brachydactyly (RUNX2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Czech dysplasia (COL2A1)
  • De la Chapelle dysplasia (SLC26A2)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Epiphyseal dysplasia, multiple, 1 (COMP)
  • Epiphyseal dysplasia, multiple, 2 (COL9A2)
  • Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Hypertrichotic osteochondrodysplasia (ABCC9)
  • Hypochondroplasia (FGFR3)
  • Hypophosphatasia, adult, childhood, infantile (ALPL)
  • Kniest dysplasia (COL2A1)
  • LADD syndrome (FGFR3)
  • Langer mesomelic dysplasia (SHOX)
  • Legg-Calve-Perthes disease (COL2A1)
  • Leri-Weill dyschondrosteosis (SHOX)
  • MEND syndrome (EBP)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Marshall syndrome (COL11A1)
  • Metaphyseal dysplasia with maxillary hypoplasia +/- brachydactyly (RUNX2)
  • Metaphyseal dysplasia with maxillary hypoplasia with/-out brachydactyly (RUNX2)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Metatropic dysplasia (TRPV4)
  • Muenke syndrome (FGFR3)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait + autistic features (ZSWIM6)
  • Odontochondrodysplasia 1 (TRIP11)
  • Odontohypophosphatasia (ALPL)
  • Osteoarthritis with mild chondrodysplasia ((COL2A1)
  • Osteogenesis imperfecta, type II (COL1A1, COL1A2)
  • Osteogenesis imperfecta, type III (COL1A1, COL1A2)
  • Osteogenesis imperfecta, type IV (COL1A1, COL1A2)
  • Osteogenesis imperfecta, type IX (PPIB)
  • Osteogenesis imperfecta, type V (IFITM5)
  • Osteogenesis imperfecta, type VI (SERPINF1)
  • Osteogenesis imperfecta, type VII (CRTAB)
  • Osteogenesis imperfecta, type VIII (P3H1)
  • Osteogenesis imperfecta, type X (SERPINH1)
  • Osteogenesis imperfecta, type XI (FKBP10)
  • Osteogenesis imperfecta, type XII (SP7)
  • Osteogenesis imperfecta, type XIII (BMP1)
  • Osteogenesis imperfecta, type XIV (TMEM38B)
  • Osteogenesis imperfecta, type XV (WNT1)
  • Osteogenesis imperfecta, type XVI (CREB3L1)
  • Osteogenesis imperfecta, type XX (MESD)
  • Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
  • Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
  • Parastremmatic dwarfism (TRPV4)
  • Pelger-Huet anomaly with mild skeletal anomalies (LBR)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Progressive pseudorheumatoid dysplasia (CCN6)
  • Pseudoachondroplasia (COMP)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • SED congenita (COL2A1)
  • SED, Maroteaux type (TRPV4)
  • SMED Strudwick type (COL2A1)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Schneckenbecken dysplasia (SLC35D1)
  • Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Short stature, advanced bone age, +- early-onset osteoarthritis +/- osteochondritis dissecans (ACAN)
  • Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2)
  • Spondylocostal dysostosis 1, AR (DLL3)
  • Spondyloenchondrodysplasia with immune dysregulation (ACP5)
  • Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Spondyloepiphyseal dysplasia tarda (TRAPPC2)
  • Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type IV (COL9A1)
  • Stickler syndrome, type V (COL9A2)
  • Thanatophoric dysplasia, type I (FGFR3)
  • Thanatophoric dysplasia, type II (FGFR3)
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
Heredity, heredity patterns etc.
  • K-a
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined